Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
Cold Spring Harbor molecular case studies
Bourne SC and Townsend KN and Shyr C and Matthews A and Lear SA and Attariwala R and Lehman A and Wasserman WW and van Karnebeek C and Sinclair G and Vallance H and Gibson WT
Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity
British Journal of Nutrition
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair GB and van Karnebeek CD and Ester M and Boyd F and Nelson T and Stockler-Ipsiroglu S and Vallance H
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and Armstrong L and Baumgartner MR and Burda P and Connolly MB and Cameron J and Demos M and Dewan T and Dionne J
Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency.
Schroder TH and Mattman A and Sinclair G and Vallance HD and Lamers Y
Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.
van Karnebeek CD and Mohammadi T and Tsao N and Sinclair G and Sirrs S and Stockler S and Marra C
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Sirrs S and van Karnebeek CD and Peng X and Shyr C and Tarailo-Graovac M and Mandal R and Testa D and Dubin D and Carbonetti G and Glynn SE and Sayson B and Robinson WP and Han B and Wishart D and Ross CJ and Wasserman WW and Hurwitz TA and Sinclair G and Kaczocha M
The genotypic and phenotypic spectrum of PIGA deficiency
Orphanet Journal of Rare Diseases
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Armstrong L and Biancheri R and Shyr C and Rossi A and Sinclair G and Ross CJ and Tarailo-Graovac M and Wasserman WW and van Karnebeek CD
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD and Sly WS and Ross CJ and Salvarinova R and Yaplito-Lee J and Santra S and Shyr C and Horvath GA and Eydoux P and Lehman AM and Bernard V and Newlove T and Ukpeh H and Chakrapani A and Preece MA and Ball S and Pitt J and Vallance HD and Coulter-Mackie M and Nguyen H
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis.
Al-Thihli K and Sinclair G and Sirrs S and Mezei M and Nelson J and Vallance H
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Yu H and van Karnebeek C and Sinclair G and Hill A and Cui H and Zhang VW and Wong LJ
Acylcarnitine profile in thyroid disease.
Wong S and Hannah-Shmouni F and Sinclair G and Sirrs S and Dahl M and Mattman A
Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Sinclair GB and Collins S and Popescu O and McFadden D and Arbour L and Vallance HD
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD and Hartmann H and Jaggumantri S and Bok LA and Cheng B and Connolly M and Coughlin CR 2nd and Das AM and Gospe SM Jr and Jakobs C and van der Lee JH and Mercimek-Mahmutoglu S and Meyer U and Struys E and Sinclair G and Van Hove J and Collet JP and Plecko BR and Stockler S
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mercimek-Mahmutoglu S and Sinclair G and van Dooren SJ and Kanhai W and Ashcraft P and Michel OJ and Nelson J and Betsalel OT and Sweetman L and Jakobs C and Salomons GS
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G and Currier R and McHugh DM and Gavrilov D and Magera MJ and Matern D and Oglesbee D and Raymond K and Rinaldo P and Smith EH and Tortorelli S and Turgeon CT and Lorey F and Wilcken B and Wiley V and Greed LC and Lewis B and Boemer F and Schoos R and Marie S
The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.
Salvarinova-Zivkovic R and Hartnett C and Sinclair G and Dix D and Horvath G and Lillquist Y and Stockler-Ipsiroglu S
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Mercimek-Mahmutoglu S and Dunbar M and Friesen A and Garret S and Hartnett C and Huh L and Sinclair G and Stockler S and Wellington S and Pouwels PJ and Salomons GS and Jakobs C
Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.
Zay A and Choy FY and Patrick C and Sinclair G
Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats.
Schutz PW and Struys EA and Sinclair G and Stockler S
Fish odour syndrome.
Li M and Al-Sarraf A and Sinclair G and Frohlich J
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M and Lillquist YP and Waters PJ and Sinclair G and Struys E and McFadden D and Hendson G and Hyams L and Shoffner J and Vallance HD
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D and Cameron CA and Abdenur JE and Abdulrahman M and Adair O and Al Nuaimi SA and Åhlman H and Allen JJ and Antonozzi I and Archer S and Au S and Auray-Blais C and Baker M and Bamforth F and Beckmann K and Pino GB and Berberich SL and Binard R and Boemer F and Bonham J
Diagnosis and management of patients with mitochondrial disease
British Columbia Medical Journal
Glycine cleavage enzyme complex: Molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts
Biochemistry and Cell Biology
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
Mercimek-Mahmutoglu S and Connolly MB and Poskitt KJ and Horvath GA and Lowry N and Salomons GS and Casey B and Sinclair G and Davis C and Jakobs C and Stockler-Ipsiroglu S
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
Collins SA and Sinclair G and McIntosh S and Bamforth F and Thompson R and Sobol I and Osborne G and Corriveau A and Santos M and Hanley B and Greenberg CR and Vallance H and Arbour L
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
Greenberg CR and Dilling LA and Thompson GR and Seargeant LE and Haworth JC and Phillips S and Chan A and Vallance HD and Waters PJ and Sinclair G and Lillquist Y and Wanders RJ and Olpin SE
Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Randall DR and Colobong KE and Hemmelgarn H and Sinclair GB and Hetty E and Thomas A and Bodamer OA and Volkmar B and Fernhoff PM and Casey R and Chan AK and Mitchell G and Stockler S and Melancon S and Rupar T and Clarke LA
Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.
Sinclair GB and Jevon G and Colobong KE and Randall DR and Choy FY and Clarke LA
Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease.
Randall DR and Sinclair GB and Colobong KE and Hetty E and Clarke LA
Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences.
Sinclair G and Pfeifer TA and Grigliatti TA and Choy FY
Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris.
Sinclair G and Choy FY
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Sinclair G and Choy FY and Ferreira P
A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
Sinclair G and Choy FY and Humphries L