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

…, MA Preece, S Ball, J Pitt, HD Vallance… - The American Journal of …, 2014 - cell.com
Four children in three unrelated families (one consanguineous) presented with lethargy,
hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and …

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

…, JC Haworth, S Phillips, A Chan, HD Vallance… - Molecular genetics and …, 2009 - Elsevier
Investigation of seven patients from three families suspected of a fatty acid oxidation defect
showed mean CPT-I enzyme activity of 5.9±4.9 percent of normal controls. The families, two …

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma α-galactosidase assay as a screening test

…, RS Singh, A Levin, BC Toh, HD Vallance… - Clinical Journal of the …, 2008 - journals.lww.com
Background and objectives: Fabry disease is a progressive X-linked disorder of glycosphingolipid
metabolism that typically presents in childhood and progresses to heart failure and …

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

…, L Hyams, J Shoffner, HD Vallance - American Journal of …, 2011 - Wiley Online Library
We describe respiratory chain complex IV deficiency (cytochrome c oxidase deficiency) in a
female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, …

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

…, A Mattman, B Jung, SI Barr, HD Vallance… - British journal of …, 2017 - cambridge.org
Maternal vitamin B12 (B12) status has been inversely associated with adverse pregnancy
outcomes and positively with fetal growth and infant development. South Asians, Canada’s …

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

…, O Popescu, D McFadden, L Arbour, HD Vallance - …, 2012 - publications.aap.org
OBJECTIVE: Infant mortality in British Columbia (BC) First Nations remains elevated relative
to other residents. The p.P479L (c.1436C>T) variant of carnitine palmitoyltransferase 1 (…

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

…, S Chan, B Lomax, P Eydoux, HD Vallance… - Molecular genetics and …, 2006 - Elsevier
Mutations in SCO2, a metallochaperone involved in mitochondrial copper delivery, are
associated with early onset, fatal hypertrophic cardiomyopathy. All reported patients carry at least …

Delays in diagnosing cystic fibrosis: Can we find ways to diagnose it earlier?

M Steinraths, HD Vallance, AGF Davidson - Canadian Family Physician, 2008 - cfp.ca
OBJECTIVE To describe the clinical presentation and delays in diagnosis of patients with
cystic fibrosis (CF) with the goal of raising physicians’ awareness of CF and establishing …

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess …

…, A Mattman, G Sinclair, SI Barr, HD Vallance… - Clinical Chemistry and …, 2019 - degruyter.com
Background Maternal vitamin B12 (B-12) adequacy is important for maternal health and
optimal fetal growth. However, pregnancy-specific cut-offs for B-12 biomarkers are lacking. …

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

…, CKK Yong, LTK Wong, DA Applegarth, HD Vallance… - Clinical …, 2003 - Elsevier
OBJECTIVE: Multiple carboxylase deficiency (MCD, MIM:253270) is a common organic
aciduria and caused by deficiency of either biotinidase or holocarboxylase synthetase (HLCS; …