BCCHR Researchers Find a Researcher

Lorne Clarke

FCCMG, BSc, MDCM, FRCPC

Investigator Emeritus, BC Children's Hospital

The main focus of my work is the investigation of the complex series of events at the cellular and tissue level that are at play in the evolution and of genetic disease. It is hoped that an understanding of disease at this level will result in the development of specific forms of therapy for rare genetic disease. My group has chosen to focus on a series of devastating progressive disorders termed lysosomal storage diseases.

Academic Affiliations

Professor Emeritus/a, Department of Medical Genetics, Faculty of Medicine, University of British Columbia
Research Theme: Childhood Diseases

Contact Information

Location

4500 Oak St, Vancouver, BC, Canada, V6H 3N1

(604) 875-3526

lclarke@bcchr.ca

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

American Journal of Medical Genetics Part A

Lauren O' Grady and Emilie S. Zoltick and Hana Zouk and Wei He and Emma Perez and Lorne Clarke and Jessica Gold and Alanna Strong and Inderneel Sahai and Julie Yeo and Robert C. Green and Amel Karaa and Nina B. Gold

DOI: 10.1002/ajmg.a.63940

04 / 2025

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Groopman E and Mohan S and Waddell A and Wilke M and Fernandez R and Weaver M and Chen H and Liu H and Bali D and Baudet H and Clarke L and Hung C and Mao R and Racacho L and Yuzyuk T and Goldstein J

DOI: 10.1101/2024.08.09.24311755

08 / 2024

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.

Journal of genetic counseling

Rojas SK and Adam S and GenCOUNSEL Study and Elliott AM and Zawati MH

DOI: 10.1002/jgc4.1943 PubMed: 38946299

07 / 2024

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Genetics in medicine : official journal of the American College of Medical Genetics

Birch P and Beauchesne R and Bansback N and Boelman C and Connolly M and Demos M and Friedman JM and Race S and Stockler S and GenCOUNSEL Study and Elliott AM and Adam S

DOI: 10.1016/j.gim.2024.101173 PubMed: 38828700

05 / 2024

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

HGG advances

Samra S and Sharma M and Vaseghi-Shanjani M and Del Bel KL and Byres L and Lin S and Dalmann J and Salman A and Mwenifumbo J and Modi BP and Biggs CM and Boelman C and Clarke LA and Lehman A and Turvey SE

DOI: 10.1016/j.xhgg.2023.100259 PubMed: 38041405

12 / 2023

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.

Cardiology in the young

Braunlin E and Bay L and Guffon N and Yang M and Pangaud N and Clarke LA

DOI: 10.1017/s1047951123003347 PubMed: 37850463

10 / 2023

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Molecular genetics and metabolism

Goldstein JL and McGlaughon J and Kanavy D and Goomber S and Pan Y and Deml B and Donti T and Kearns L and Seifert BA and Schachter M and Son RG and Thaxton C and Udani R and Bali D and Rehder C

DOI: 10.1016/j.ymgme.2023.107715 PubMed: 37907381

09 / 2023

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

DOI: 10.1101/2023.08.25.23294399

08 / 2023

The practice of genomic medicine: A delineation of the process and its governing principles.

Frontiers in medicine

Handra J and Elbert A and Gazzaz N and Moller-Hansen A and Hyunh S and Lee HK and Boerkoel P and Alderman E and Anderson E and Clarke L and Hamilton S and Hamman R and Hughes S and Ip S and Armstrong L

DOI: 10.3389/fmed.2022.1071348 PubMed: 36714130

01 / 2023

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

American Journal of Medical Genetics Part A

Lynda E. Polgreen and Luisa Bay and Lorne A. Clarke and Nathalie Guffon and Simon A. Jones and Joseph Muenzer and Ana Lorena Flores and Kathryn Wilson and David Viskochil

DOI: 10.1002/ajmg.a.62910

10 / 2022

Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.

Angewandte Chemie (International ed. in English)

Santana AG and Robinson K and Vickers C and Deen MC and Chen HM and Zhou S and Dai B and Fuller M and Boraston AB and Vocadlo DJ and Clarke LA and Withers SG

DOI: 10.1002/anie.202207974 PubMed: 35864061

08 / 2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

HGG advances

Elliott AM and Adam S and du Souich C and Lehman A and Nelson TN and van Karnebeek C and Alderman E and Armstrong L and Aubertin G and Blood K and Boelman C and Boerkoel C and Friedman JM

DOI: 10.1016/j.xhgg.2022.100108 PubMed: 35599849

04 / 2022

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.

Genetics in medicine : official journal of the American College of Medical Genetics

Chin HL and Gazzaz N and Huynh S and Handra I and Warnock L and Moller-Hansen A and Boerkoel P and Jacobsen JOB and du Souich C and Zhang N and Shefchek K and Prentice LM and Boerkoel CF

DOI: 10.1016/j.gim.2022.03.013 PubMed: 35442193

04 / 2022

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review.

JAMA pediatrics

Wainstein T and Marshall SK and Ross CJD and Virani AK and Austin JC and Elliott AM and GenCOUNSEL Study

DOI: 10.1001/jamapediatrics.2021.4290 PubMed: 34807246

02 / 2022

The stepwise process of integrating a genetic counsellor into primary care.

European journal of human genetics : EJHG

Slomp C and Morris E and GenCOUNSEL Study and Price M and Elliott AM and Austin J

DOI: 10.1038/s41431-022-01040-x PubMed: 35095102

01 / 2022

Somatic mosaicism detected by genome-wide sequencing in 500 parent"child trios with suspected genetic disease: clinical and genetic counseling implications

Molecular Case Studies

Courtney B. Cook and Linlea Armstrong and Cornelius F. Boerkoel and Lorne A. Clarke and Christle du Souich and Michelle K. Demos and William T. Gibson and Harinder Gill and Elena Lopez and Millan S. Patel and Kathryn Selby and Ziad Abu-Sharar and Alison M. Elliott and Jan M. Friedman

DOI: 10.1101/mcs.a006125

12 / 2021

Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease.

Chemical science

Scherer M and Santana AG and Robinson K and Zhou S and Overkleeft HS and Clarke L and Withers SG

DOI: 10.1039/d1sc03831a PubMed: 34760177

09 / 2021

Mucopolysaccharidosis Type I

Clarke LA

PubMed: 20301341

02 / 2021

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

International Journal of Neonatal Screening

Lorne Clarke and Patricia Dickson and N. Matthew Ellinwood and Terri L. Klein

DOI: 10.3390/ijns6040091

11 / 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics

Castilla-Vallmanya L and Selmer KK and Dimartino C and Rabionet R and Blanco-Snchez B and Yang S and Reijnders MRF and van Essen AJ and Oufadem M and Vigeland MD and Stadheim B and Gordon CT

DOI: 10.1038/s41436-020-0792-7 PubMed: 32376980

05 / 2020

Mobile element insertion detection in 89,874 clinical exomes.

Genetics in medicine : official journal of the American College of Medical Genetics

Torene RI and Galens K and Liu S and Arvai K and Borroto C and Scuffins J and Zhang Z and Friedman B and Sroka H and Heeley J and Beaver E and Clarke L and Neil S and Walia J and Hull D and Retterer K

DOI: 10.1038/s41436-020-0749-x PubMed: 31965078

01 / 2020

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clinical Genetics

Lorne A. Clarke and Roberto Giugliani and Nathalie Guffon and Simon A. Jones and Hillary A. Keenan and Maria V. Munoz-Rojas and Torayuki Okuyama and David Viskochil and Chester B. Whitley and Frits A. Wijburg and Joseph Muenzer

DOI: 10.1111/cge.13583

10 / 2019

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

American journal of medical genetics. Part A

Viskochil D and Clarke LA and Bay L and Keenan H and Muenzer J and Guffon N

DOI: 10.1002/ajmg.a.61378 PubMed: 31639289

10 / 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal of human genetics

Sekiguchi F and Tsurusaki Y and Okamoto N and Teik KW and Mizuno S and Suzumura H and Isidor B and Ong WP and Haniffa M and White SM and Matsuo M and Saito K and Phadke S and Kosho T and Matsumoto N

DOI: 10.1038/s10038-019-0667-4 PubMed: 31530938

09 / 2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit"successes and challenges

European Journal of Pediatrics

DOI: 10.1007/s00431-019-03399-4

06 / 2019

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2019.03.010

05 / 2019

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

JIMD reports

Cox GF and Clarke LA and Giugliani R and McGovern MM

DOI: 10.1007/8904_2018_120 PubMed: 29995201

07 / 2018

Is it Fabry disease?

Genetics in Medicine

Schiffmann, R. and Fuller, M. and Clarke, L.A. and Aerts, J.M.F.G.

DOI: 10.1038/gim.2016.55

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Journal of Pediatrics

Clarke, L.A. and Atherton, A.M. and Burton, B.K. and Day-Salvatore, D.L. and Kaplan, P. and Leslie, N.D. and Scott, C.R. and Stockton, D.W. and Thomas, J.A. and Muenzer, J.

DOI: 10.1016/j.jpeds.2016.11.036

12year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: The important role of early treatment

BMC Medical Genetics

Gabrielli, O. and Clarke, L.A. and Ficcadenti, A. and Santoro, L. and Zampini, L. and Volpi, N. and Coppa, G.V.

DOI: 10.1186/s12881-016-0284-4

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

Molecular Genetics and Metabolism

Clarke, L.A. and Harmatz, P. and Fong, E.W.

DOI: 10.1016/j.ymgme.2015.12.157

Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial

PLoS ONE

Wijburg, F.A. and Bnichou, B. and Bichet, D.G. and Clarke, L.A. and Dostalova, G. and Fainboim, A. and Fellgiebel, A. and Forcelini, C. and Haack, K.A. and Hopkin, R.J. and Mauer, M. and Najafian, B. and Scott, C.R. and Shankar, S.P. and Thurberg, B.L. and T?ndel, C. and Tylki-Szyma?ska, A. and Ramaswami, U.

DOI: 10.1371/journal.pone.0124987

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

Best Practice and Research: Clinical Endocrinology and Metabolism

Clarke, L.A. and Hollak, C.E.M.

DOI: 10.1016/j.beem.2014.08.010

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

Molecular Genetics and Metabolism

Heppner, J.M. and Zaucke, F. and Clarke, L.A.

DOI: 10.1016/j.ymgme.2014.09.012

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

Skeletal Radiology

Lachman, R.S. and Burton, B.K. and Clarke, L.A. and Hoffinger, S. and Ikegawa, S. and Jin, D.-K. and Kano, H. and Kim, O.-H. and Lampe, C. and Mendelsohn, N.J. and Shediac, R. and Tanpaiboon, P. and White, K.K.

DOI: 10.1007/s00256-013-1797-y

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Molecular genetics and metabolism

Jones SA and Parini R and Harmatz P and Giugliani R and Fang J and Mendelsohn NJ and HOS Natural History Working Group on behalf of HOS Investigators

DOI: 10.1016/j.ymgme.2013.03.001 PubMed: 23537841

03 / 2013

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

European journal of pediatrics

Cohn GM and Morin I and Whiteman DA and Hunter Outcome Survey Investigators

DOI: 10.1007/s00431-013-1967-x PubMed: 23468122

03 / 2013

Fetal progeria: Prenatal sonographic findings in petty syndrome

Journal of Ultrasound in Medicine

Pugash, D. and Schrader, K.A. and Dunham, C.P. and Popescu, O.-E. and Sargent, M.A. and Lehman, A.M. and Yong, S.L. and Clarke, L.A.

DOI: 10.7863/ultra.32.5.881

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

Blood Cells, Molecules, and Diseases

Sanders, A. and Hemmelgarn, H. and Melrose, H.L. and Hein, L. and Fuller, M. and Clarke, L.A.

DOI: 10.1016/j.bcmd.2013.03.006

Biomarkers

Advances in Gaucher Disease: Basic and Clinical Perspectives

Clarke, L.

DOI: 10.2217/EBO.12.189

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Orphanet Journal of Rare Diseases

DOI: 10.1186/1750-1172-7-22

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

European Journal of Pediatrics

Muenzer, J. and Bodamer, O. and Burton, B. and Clarke, L. and Frenking, G.S. and Giugliani, R. and Jones, S. and Rojas, M.V.M. and Scarpa, M. and Beck, M. and Harmatz, P.

DOI: 10.1007/s00431-011-1606-3

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Molecular Genetics and Metabolism

Clarke, L.A. and Winchester, B. and Giugliani, R. and Tylki-Szyma?ska, A. and Amartino, H.

DOI: 10.1016/j.ymgme.2012.05.003

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Glycobiology

He, X. and Galpin, J.D. and Tropak, M.B. and Mahuran, D. and Haselhorst, T. and Von Itzstein, M. and Kolarich, D. and Packer, N.H. and Miao, Y. and Jiang, L. and Grabowski, G.A. and Clarke, L.A. and Kermode, A.R.

DOI: 10.1093/glycob/cwr157

Production of a-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease

Nature Communications

He, X. and Haselhorst, T. and Von Itzstein, M. and Kolarich, D. and Packer, N.H. and Gloster, T.M. and Vocadlo, D.J. and Clarke, L.A. and Qian, Y. and Kermode, A.R.

DOI: 10.1038/ncomms2070

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis i and II patients

Journal of Inherited Metabolic Disease

Clarke, L.A. and Hemmelgarn, H. and Colobong, K. and Thomas, A. and Stockler, S. and Casey, R. and Chan, A. and Fernoff, P. and Mitchell, J.

DOI: 10.1007/s10545-011-9369-6

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication

Molecular Genetics and Metabolism

Cabrera, G.H. and Fernndez, I. and Dominguez, M. and Clarke, L.A.

DOI: 10.1016/j.ymgme.2012.06.001

Laronidase for the treatment of mucopolysaccharidosis type I.

Expert review of endocrinology & metabolism

Clarke LA

DOI: 10.1586/eem.11.72 PubMed: 30780865

11 / 2011

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

Circulation Research

Regalado, E.S. and Guo, D.-C. and Villamizar, C. and Avidan, N. and Gilchrist, D. and McGillivray, B. and Clarke, L. and Bernier, F. and Santos-Cortez, R.L. and Leal, S.M. and Bertoli-Avella, A.M. and Shendure, J. and Rieder, M.J. and Nickerson, D.A. and Milewicz, D.M.

DOI: 10.1161/CIRCRESAHA.111.248161

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage is merely the instigator

Rheumatology

Clarke, L.A.

DOI: 10.1093/rheumatology/ker395

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation

Molecular Genetics and Metabolism

Wang, D. and Shukla, C. and Liu, X. and Schoeb, T.R. and Clarke, L.A. and Bedwell, D.M. and Keeling, K.M.

DOI: 10.1016/j.ymgme.2009.08.002

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

Pediatrics

Gabrielli, O. and Clarke, L.A. and Bruni, S. and Coppa, G.V.

DOI: 10.1542/peds.2009-1728

Imaging of enzyme replacement therapy using PET

Proceedings of the National Academy of Sciences of the United States of America

Phenix, C.P. and Rempel, B.P. and Colobong, K. and Doudet, D.J. and Adam, M.J. and Clarke, L.A. and Withers, S.G.

DOI: 10.1073/pnas.1003247107

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

Journal of Clinical Investigation

Dawson, P.A. and Russell, C.S. and Lee, S. and McLeay, S.C. and Van Dongen, J.M. and Cowley, D.M. and Clarke, L.A. and Markovich, D.

DOI: 10.1172/JCI31474

Corrigendum to "Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation" [Mol. Genet. Metab. 99 (2010) 62-71] (DOI:10.1016/j.ymgme.2009.08.002)

Molecular Genetics and Metabolism

Wang, D. and Shukla, C. and Liu, X. and Schoeb, T.R. and Clarke, L.A. and Bedwell, D.M. and Keeling, K.M.

DOI: 10.1016/j.ymgme.2009.12.013

Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants.

Neurology

Marder K and Zhao H and Eberly S and Tanner CM and Oakes D and Shoulson I and Huntington Study Group

DOI: 10.1212/wnl.0b013e3181b04aa2 PubMed: 19652143

08 / 2009

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Journal of inherited metabolic disease

Jones SA and Almssy Z and Beck M and Burt K and Clarke JT and Giugliani R and Hendriksz C and Kroepfl T and Lavery L and Lin SP and Malm G and Ramaswami U and Tincheva R and Wraith JE and HOS Investigators

DOI: 10.1007/s10545-009-1119-7 PubMed: 19597960

07 / 2009

The mucopolysaccharidoses: A success of molecular medicine (Expert Reviews in Molecular Medicine (2008) 10, (e1) DOI: 10.1017/S1462399408000550)

Expert Reviews in Molecular Medicine

Clarke, L.A.

DOI: 10.1017/S1462399409001185

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Pediatrics

Clarke, L.A. and Wraith, J.E. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J. and Rapoport, D.M. and Berger, K.I. and Sidman, M. and Kakkis, E.D. and Cox, G.F.

DOI: 10.1542/peds.2007-3847

Mucopolysaccharidosis I: Management and treatment guidelines

Pediatrics

Muenzer, J. and Wraith, J.E. and Clarke, L.A.

DOI: 10.1542/peds.2008-0416

Intracranial calcification after cord blood neonatal transplantation for Krabbe disease

Neuropediatrics

Lehman, A.M. and Schultz, K.R. and Poskitt, K. and Bjornson, B. and Keyes, R. and Waters, P.J. and Clarke, L.A. and Everett, R. and McConnell, D. and Stockler, S.

DOI: 10.1055/s-0029-1243189

Production and characterization of soluble human lysosomal enzyme a-iduronidase with high activity from culture media of transgenic tobacco BY-2 cells

Plant Science

Fu, L.H. and Miao, Y. and Lo, S.W. and Seto, T.C. and Sun, S.S.M. and Xu, Z.-F. and Clemens, S. and Clarke, L.A. and Kermode, A.R. and Jiang, L.

DOI: 10.1016/j.plantsci.2009.08.016

Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities

American Journal of Pathology

Wilson, S. and Hashamiyan, S. and Clarke, L. and Saftig, P. and Mort, J. and Dejica, V.M. and Brmme, D.

DOI: 10.2353/ajpath.2009.090211

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Molecular cytogenetics

Tyson C and Qiao Y and Harvard C and Liu X and Bernier FP and McGillivray B and Farrell SA and Arbour L and Chudley AE and Clarke L and Gibson W and Dyack S and McLeod R and Costa T and Rajcan-Separovic E

DOI: 10.1186/1755-8166-1-23 PubMed: 19000322

11 / 2008

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.

American journal of medical genetics. Part A

Lee P and Treacy EP and Crombez E and Wasserstein M and Waber L and Wolff J and Wendel U and Dorenbaum A and Bebchuk J and Christ-Schmidt H and Seashore M and Giovannini M and Sapropterin Research Group

DOI: 10.1002/ajmg.a.32562 PubMed: 18932221

11 / 2008

Pharmacokinetics of sapropterin in patients with phenylketonuria

Clinical Pharmacokinetics

Feillet, F. and Clarke, L. and Meli, C. and Lipson, M. and Morris, A.A. and Harmatz, P. and Mould, D.R. and Green, B. and Dorenbaum, A. and Giovannini, M. and Foehr, E.

DOI: 10.2165/0003088-200847120-00006

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Pediatric Research

Hopkin, R.J. and Bissler, J. and Banikazemi, M. and Clarke, L. and Eng, C.M. and Germain, D.P. and Lemay, R. and Tylki-Szymanska, A. and Wilcox, W.R.

DOI: 10.1203/PDR.0b013e318183f132

Idursulfase for the treatment of mucopolvsaccharidosis II

Expert Opinion on Pharmacotherapy

Clarke, L.A.

DOI: 10.1517/14656566.9.2.311

The mucopolysaccharidoses: A success of molecular medicine

Expert Reviews in Molecular Medicine

Clarke, L.A.

DOI: 10.1017/S1462399408000550

Heparin cofactor II-thrombin complex: A biomarker of MPS disease

Molecular Genetics and Metabolism

Randall, D.R. and Colobong, K.E. and Hemmelgarn, H. and Sinclair, G.B. and Hetty, E. and Thomas, A. and Bodamer, O.A. and Volkmar, B. and Fernhoff, P.M. and Casey, R. and Chan, A.K. and Mitchell, G. and Stockler, S. and Melancon, S. and Rupar, T. and Clarke, L.A.

DOI: 10.1016/j.ymgme.2008.05.001

A Phase III Extension Study of Aldurazyme(Laronidase) in Mucopolysaccharidosis I

Clinical Therapeutics

Clarke, L.A. and Wraith, J.E. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J.

DOI: 10.1016/S0149-2918(07)80472-3

Mucopolysaccharidosis I

Lysosomal Storage Disorders

Clarke, L.A.

DOI: 10.1007/978-0-387-70909-3_24

Mucopolysaccharidosis II

Lysosomal Storage Disorders

Clarke, L.A.

DOI: 10.1007/978-0-387-70909-3_25

Generation of a conditional knockout of murine glucocerebrosidase: Utility for the study of Gaucher disease

Molecular Genetics and Metabolism

Sinclair, G.B. and Jevon, G. and Colobong, K.E. and Randall, D.R. and Choy, F.Y.M. and Clarke, L.A.

DOI: 10.1016/j.ymgme.2006.09.008

Heparin cofactor II-thrombin complex in MPS I: A biomarker of MPS disease

Molecular Genetics and Metabolism

Randall, D.R. and Sinclair, G.B. and Colobong, K.E. and Hetty, E. and Clarke, L.A.

DOI: 10.1016/j.ymgme.2006.01.005

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

Molecular Genetics and Metabolism

Leary, S.C. and Mattman, A. and Wai, T. and Koehn, D.C. and Clarke, L.A. and Chan, S. and Lomax, B. and Eydoux, P. and Vallance, H.D. and Shoubridge, E.A.

DOI: 10.1016/j.ymgme.2006.04.016

Synthesis of enzymatically active human a-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds

Plant Biotechnology Journal

Downing, W.L. and Galpin, J.D. and Clemens, S. and Lauzon, S.M. and Samuels, A.L. and Pidkowich, M.S. and Clarke, L.A. and Kermode, A.R.

DOI: 10.1111/j.1467-7652.2005.00166.x

Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: Implications for assessment of therapeutic interventions in Hurler syndrome

Pediatric Research

Braunlin, E. and Mackey-Bojack, S. and Panoskaltsis-Mortari, A. and Berry, J.M. and Mcelmurry, R.T. and Riddle, M. and Sun, L.-Y. and Clarke, L.A. and Tolar, J. and Blazar, B.R.

DOI: 10.1203/01.pdr.0000190579.24054.39

A homology model for human a-L-iduronidase: Insights into human disease

Molecular Genetics and Metabolism

Rempel, B.P. and Clarke, L.A. and Withers, S.G.

DOI: 10.1016/j.ymgme.2004.12.006

Submicroscopic deletions and duplications in individuals with intellectual disability detected by Array-CGH

American Journal of Medical Genetics

Tyson, C. and Harvard, C. and Locker, R. and Friedman, J.M. and Langlois, S. and Lewis, M.E.S. and Van Allen, M. and Somerville, M. and Arbour, L. and Clarke, L. and McGilivray, B. and Yong, S.L. and Siegel-Bartel, J. and Rajcan-Separovic, E.

DOI: 10.1002/ajmg.a.31015

Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human a-L-iduronidase (laronidase)

Journal of Pediatrics

Wraith, J.E. and Clarke, L.A. and Beck, M. and Kolodny, E.H. and Pastores, G.M. and Muenzer, J. and Rapoport, D.M. and Berger, K.I. and Swiedler, S.J. and Kakkis, E.D. and Braakman, T. and Chadbourne, E. and Walton-Bowen, K. and Cox, G.F.

DOI: 10.1016/j.jpeds.2004.01.046

Long-Term Follow-Up of Three Individuals with Kabuki Syndrome

American Journal of Medical Genetics

Shalev, S.A. and Clarke, L.A. and Koehn, D. and Langlois, S. and Zackai, E.H. and Hall, J.G. and McDonald McGinn, D.M.

Pseudo-lysosomal storage disease caused by EMLA cream

Journal of Inherited Metabolic Disease

Vallance, H. and Chaba, T. and Clarke, L. and Taylor, G.

DOI: 10.1023/B:BOLI.0000037352.98317.5a

Spasms in children with definite and probable mitochondrial disease

European Journal of Neurology

Sadleir, L.G. and Connolly, M.B. and Applegarth, D. and Hendson, G. and Clarke, L. and Rakshi, C. and Farrell, K.

DOI: 10.1046/j.1351-5101.2003.00724.x

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with leber hereditary optic neuropathy

American Journal of Human Genetics

Howell, N. and Oostra, R.-J. and Bolhuis, P.A. and Spruijt, L. and Clarke, L.A. and Mackey, D.A. and Preston, G. and Herrnstadt, C.

DOI: 10.1086/375537

Family 39 a-L-iduronidases and -D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophile

Biochemistry

Nieman, C.E. and Wong, A.W. and He, S. and Clarke, L. and Hopwood, J.J. and Withers, S.G.

DOI: 10.1021/bi034293v

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly

Journal of Pediatric Gastroenterology and Nutrition

Gillett, P.M. and Schreiber, R.A. and Jevon, G.P. and Israel, D.M. and Warshawski, T. and Vallance, H. and Clarke, L.A.

DOI: 10.1097/00005176-200108000-00025

Recombinant proteins for genetic disease

Clinical Genetics

Russell, C.S. and Clarke, L.A.

DOI: 10.1034/j.1399-0004.1999.550601.x

Murine MPS I: Insights into the pathogenesis of Hurler syndrome

Clinical Genetics

Russell, C. and Hendson, G. and Jevon, G. and Matlock, T. and Yu, J. and Aklujkar, M. and Ng, K.-Y. and Clarke, L.A.

Murine mucopolysaccharidosis type I: Targeted disruption of the murine a-L-iduronidase gene

Human Molecular Genetics

Clarke, L.A. and Russell, C.S. and Pownall, S. and Warrington, C.L. and Borowski, A. and Dimmick, J.E. and Toone, J. and Jirik, F.R.

DOI: 10.1093/hmg/6.4.503

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

American Journal of Human Genetics

Muenke, M. and Gripp, K.W. and McDonald-McGinn, D.M. and Gaudenz, K. and Whitaker, L.A. and Bartlett, S.P. and Markowitz, R.I. and Robin, N.H. and Nwokoro, N. and Mulvihill, J.J. and Losken, H.W. and Mulliken, J.B. and Guttmacher, A.E. and Wilroy, R.S. and Clarke, L.A. and Hollway, G. and Ads, L.C. and Haan, E.A. and Mulley, J.C. and Cohen Jr., M.M. and Bellus, G.A. and Francomano, C.A. and Moloney, D.M. and Wall, S.A. and Wilkie, A.O.M. and Zackai, E.H.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Nature Genetics

Bellus, G.A. and Gaudenz, K. and Zackai, E.H. and Clarke, L.A. and Szabo, J. and Francomano, C.A. and Muenke, M.

DOI: 10.1038/ng1096-174

Isolated mitochondria from frozen muscle have limited value in diagnostics

European Journal of Pediatrics

Scholte, H.R. and Trijbels, J.M.F. and Applegarth, D.A. and Tong, T. and Clarke, L.A.

DOI: 10.1007/BF01972981

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

Human Mutation

Scott, H.S. and Bunge, S. and Gal, A. and Clarke, L.A. and Morris, C.P. and Hopwood, J.J.

DOI: 10.1002/humu.1380060403

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

Arteriosclerosis and thrombosis : a journal of vascular biology

Gagn E and Genest J and Zhang H and Clarke LA and Hayden MR

DOI: 10.1161/01.atv.14.8.1250 PubMed: 8049185

08 / 1994

Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (Nature Genetics (1994) 6 (409-413))

Nature Genetics

Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.

Stability of frozen muscle used for mitochondrial enzyme assays

European Journal of Pediatrics

Applegarth, D.A. and Tong, T. and Clarke, L.A.

DOI: 10.1007/BF01959232

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

Nature Genetics

Telenius, H. and Kremer, B. and Goldberg, Y.P. and Theilmann, J. and Andrew, S.E. and Zeisler, J. and Adam, S. and Greenberg, C. and Ives, E.J. and Clarke, L.A. and Hayden, M.R.

DOI: 10.1038/ng0494-409

Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity

Human Molecular Genetics

Robin, N.H. and Feldman, G.J. and Mitchell, H.F. and Lorenz, P. and Wilroy, R.S. and Zackal, E.H. and Aiianson, J.E. and Reich, E.W. and Pfeiffer, R.A. and Clarke, L.A. and Warmani, M.L. and Mulliken, J.B. and Brueton, L.A. and Winter, R.M. and Price, R.A. and Gasser, D.L. and Muenke, M.

DOI: 10.1093/hmg/3.12.2153

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia

Arteriosclerosis, Thrombosis, and Vascular Biology

Gagn, E. and Genest Jr., J. and Zhang, H. and Clarke, L.A. and Hayden, M.R.

Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fish

Prenatal Diagnosis

Wilson, R.D. and Harrison, K. and Clarke, L.A. and Yong, S.L.

DOI: 10.1002/pd.1970140904

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations

Human Mutation

Clarke, L.A. and Nelson, P.V. and Warrington, C.L. and Morris, C.P. and Hopwood, J.J. and Scott, H.S.

DOI: 10.1002/humu.1380030316

Murine a-l-Iduronidase: cDNA Isolation and Expression

Genomics

Clarke, L.A. and Nasir, J. and Zhang, H. and McDonald, H. and Applegarth, D.A. and Hayden, M.R. and Toone, J.

DOI: 10.1006/geno.1994.1621

A PCR method for accurate assessment of trinucleotide repeat expansion in huntington disease

Human Molecular Genetics

Goldberg, Y.P. and Andrew, S.E. and Clarke, L.A. and Hayden, M.R.

DOI: 10.1093/hmg/2.6.635

Two novel mutations causing mucopolysaccharidosis type i detected by single strand conformational analysis of the a-L-iduronidase gene

Human Molecular Genetics

Clarke, L.A. and Scott, H.S.

DOI: 10.1093/hmg/2.8.1311

A transcription map of the region containing the huntington disease gene

Human Molecular Genetics

Rommens, J.M. and Lin, B. and Hutchinson, G.B. and Andrew, S.E. and Goldberg, Y.P. and Glaves, M.L. and Graham, R. and Lal, V. and Mcarthur, J. and Nasir, J. and Theilmann, J. and Mcdonald, H. and Kalchman, M. and Clarke, L.A. and Schappert, K. and Hayden, M.R.

DOI: 10.1093/hmg/2.7.901

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

Nature

Goldberg, Y.P. and Rommens, J.M. and Andrew, S.E. and Hutchinson, G.B. and Lin, B. and Theilmann, J. and Graham, R. and Glaves, M.L. and Starr, E. and McDonald, H. and Nasir, J. and Schappert, K. and Kalchman, M.A. and Clarke, L.A. and Hayden, M.R.

Erratum: A transcription map of the region containing the Huntington disease gene (Human molecular genetics (1993) 2 (901-907))

Human Molecular Genetics

Rommens, J.M. and Lin, B. and Hutchinson, G.B. and Andrew, S.E. and Goldberg, Y.P. and Glaves, M.L. and Graham, R. and Lai, V. and McArthur, J. and Nasir, J. and Theilmann, J. and McDonald, H. and Kalchman, M. and Clarke, L.A. and Schappert, K. and Hayden, M.R.

Long term survival of an infant with sirenomelia

American Journal of Medical Genetics

Clarke, L.A. and Stringer, D.A. and Fraser, G.C. and Siu Li Yong

DOI: 10.1002/ajmg.1320450303

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

American journal of human genetics

Mashima Y and Murakami A and Weleber RG and Kennaway NG and Clarke L and Shiono T and Inana G

PubMed: 1609808

07 / 1992

Mitochondrial disorders in pediatrics. Clinical, biochemical, and genetic implications.

Pediatric clinics of North America

Clarke LA

DOI: 10.1016/s0031-3955(16)38297-9 PubMed: 1553246

04 / 1992

Cloning and mapping of the a-adducin gene close to D4S95 and assessment of its relationship to huntington disease

Human Molecular Genetics

Goldberg, Y.P. and Lin, B.-Y. and Andrew, S.E. and Nasir, J. and Graham, R. and Glaves, M.L. and Hutchinson, G. and Theilmann, J. and Ginzinger, D.G. and Schappert, K. and Clarke, L. and Rommens, J.M. and Hayden, M.R.

DOI: 10.1093/hmg/1.9.669

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

American Journal of Human Genetics

Mashima, Y. and Murakami, A. and Weleber, R.G. and Kennaway, N.G. and Clarke, L. and Shiono, T. and Inana, G.

Mitochondrial disorders in pediatrics: Clinical, biochemical, and genetic implications

Pediatric Clinics of North America

Clarke, L.A.

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.

The New England journal of medicine

Ma Y and Henderson HE and Murthy V and Roederer G and Monsalve MV and Clarke LA and Normand T and Julien P and Gagn C and Lambert M

DOI: 10.1056/nejm199106203242502 PubMed: 2038366

06 / 1991

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians

New England Journal of Medicine

Ma, Y. and Henderson, H.E. and Ven Murthy, M.R. and Roederer, G. and Monsalve, M.V. and Clarke, L.A. and Normand, T. and Julien, P. and Gagn, C. and Lambert, M. and Davignon, J. and Lupien, P.J. and Brunzell, J. and Hayden, M.R.

Sudden, unexpected, natural death in childhood

Fetal and Pediatric Pathology

Norman, M.G. and Taylor, G.P. and Clarke, L.A.

DOI: 10.3109/15513819009064711

Crystal diaper syndrome.

CMAJ : Canadian Medical Association journal = journal de l"Association medicale canadienne

Clarke, L.A. and Applegarth, D.A.

Hyperuricemia in disorders of fatty acid oxidation.

Clinical chemistry

Cole DE and Clarke LA and McPhee MD and Marie MS

PubMed: 3359635

04 / 1988

Clinical trial of BH4 for the treatment of classical PKU

It has now been suggested that small molecules can act as chemical chaperones for misfolded proteins that are caused by point mutations of genes. PKU is an inborn error of metabolism that is currently treated by very restrictive diet. In vitro studies have shown that BH4 can stabilize mutant PAH enzyme and lead to greater tolerance of PHE in the diet.

Proteomic approach to the identification of biomarkers of MPS disease

This project involves the identification, through serum proteomic studies, markers of disease severity and responsiveness. Markers will initially be identified in a murine model and subsequently validated in human samples.

Clinical trial of recombinant iduronidase in the treatment of MPSI

Clinical trial of recombinant iduronidase in the treatment of MPSI. This is a complex multicenter multinational clinical trial of the use of iduronidase for the treatment of the genetic disease MPS I.

Honours & Awards

Canadian Glyconomics network Award- 2017

Canadian Organization for Rare Disorders (CORD) Rarity Award for Scientific Excellence - 2013.

Our Research

At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

EXPLORE OUR RESEARCH

Lorne Clarke

FCCMG, BSc, MDCM, FRCPC

Investigator Emeritus, BC Children's Hospital

Academic Affiliations

Contact Information

Location

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Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

The practice of genomic medicine: A delineation of the process and its governing principles.

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review.

The stepwise process of integrating a genetic counsellor into primary care.

Somatic mosaicism detected by genome-wide sequencing in 500 parent"child trios with suspected genetic disease: clinical and genetic counseling implications

Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease.

Mucopolysaccharidosis Type I

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Mobile element insertion detection in 89,874 clinical exomes.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit"successes and challenges

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Is it Fabry disease?

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

12year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: The important role of early treatment

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Fetal progeria: Prenatal sonographic findings in petty syndrome

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

Biomarkers

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Production of a-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis i and II patients

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication

Laronidase for the treatment of mucopolysaccharidosis type I.

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage is merely the instigator

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

Imaging of enzyme replacement therapy using PET

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

Corrigendum to "Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation" [Mol. Genet. Metab. 99 (2010) 62-71] (DOI:10.1016/j.ymgme.2009.08.002)

Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants.

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

The mucopolysaccharidoses: A success of molecular medicine (Expert Reviews in Molecular Medicine (2008) 10, (e1) DOI: 10.1017/S1462399408000550)

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Mucopolysaccharidosis I: Management and treatment guidelines

Intracranial calcification after cord blood neonatal transplantation for Krabbe disease

Production and characterization of soluble human lysosomal enzyme a-iduronidase with high activity from culture media of transgenic tobacco BY-2 cells

Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.

Pharmacokinetics of sapropterin in patients with phenylketonuria

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Idursulfase for the treatment of mucopolvsaccharidosis II

The mucopolysaccharidoses: A success of molecular medicine

Heparin cofactor II-thrombin complex: A biomarker of MPS disease

A Phase III Extension Study of Aldurazyme(Laronidase) in Mucopolysaccharidosis I