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List of works by Graham Sinclair

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

article

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

scientific article

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

scientific article published on 7 May 2016

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

scientific article published on 24 June 2014

Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration

scientific article published on 24 May 2019

Acylcarnitine profile in thyroid disease.

scientific article

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

scientific article

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

scientific article published on 22 October 2012

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

scientific article published in March 2011

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

scientific article published on 28 March 2015

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

scientific article published on 4 October 2013

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

scientific article published on 6 October 2011

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Fish odour syndrome.

scientific article

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

scientific article published on 31 October 2006

Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts

scientific article (publication date: June 2011)

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

scientific article published on 3 August 2012

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

scientific article published on 15 July 2014

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

scientific article published on 23 February 2006

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

scientific article published on 03 June 2008

Heterologous Expression and Characterization of a Rare Gaucher Disease Mutation (c.481C > T) from a Canadian Aboriginal Population Using Archival Tissue Samples ⬇️

scientific article published on November 1, 2001

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

scientific article

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

scientific article

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

scientific article published on January 2017

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

scientific article published on 18 September 2017

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats

scientific article published on 26 February 2011

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

scientific article published on 25 July 2018

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

scientific article published on 31 March 2016

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

scientific article published on 01 October 2019

Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences

scientific article published on April 2006

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity

scientific article published on 01 December 2019

Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris

scientific article published in October 2002

The genotypic and phenotypic spectrum of PIGA deficiency

scientific article

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

scientific article published on 06 August 2018

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

scientific article (publication date: April 2009)

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

scientific article published on 16 January 2012

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

scientific article published on 26 August 2010

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