about
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementThe paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populationsCarnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and NunavutIDH2 mutations in patients with D-2-hydroxyglutaric aciduriaSingle point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingCarrier testing for autosomal-recessive disorders.Biochemical approach to the investigation of pediatric mitochondrial disease.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.Exome Sequencing and the Management of Neurometabolic Disorders.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency.A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada.Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.Newborn screening by tandem mass spectrometry: ethical and social issues.Prediction of obstetrical risk using maternal serum markers and clinical risk factors.Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.Infantile cardioencephalopathy due to a COX15 gene defect: report and review.The p.P479L variant in CPT1A is associated with infectious disease in a BC First NationA mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generationsIntegrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Hilary Vallance
@en
Hilary Vallance
@es
Hilary Vallance
@nl
Hilary Vallance
@sl
type
label
Hilary Vallance
@en
Hilary Vallance
@es
Hilary Vallance
@nl
Hilary Vallance
@sl
prefLabel
Hilary Vallance
@en
Hilary Vallance
@es
Hilary Vallance
@nl
Hilary Vallance
@sl
P108
P106
P31
P496
0000-0003-1734-1445