Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

D Watkins, JA Schwartzentruber, J Ganesh… - Journal of medical …, 2011 - jmg.bmj.com
Objective An infant was investigated because of megaloblastic anaemia, atypical hemolytic
uraemic syndrome, severe combined immune deficiency, elevated blood levels of …

[HTML][HTML] Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

S Lévesque, C Auray-Blais, E Gravel, M Boutin… - Orphanet Journal of …, 2016 - Springer
Abstract Background Late-onset Pompe disease (LOPD) is a rare treatable lysosomal
storage disorder characterized by progressive lysosomal glycogen accumulation and …

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

A Alfares, LD Nunez, K Al-Thihli, J Mitchell… - Journal of medical …, 2011 - jmg.bmj.com
Background Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive
inborn error of metabolism characterised by elevations of urine malonic acid (MA) and …

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

L Dempsey-Nunez, ML Illson, J Kent, Q Huang… - Molecular Genetics and …, 2012 - Elsevier
The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl).
Mutations in this gene lead to the cblA class of disorders, characterized by isolated …

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

S Gupta, S Fahiminiya, T Wang… - Molecular …, 2016 - molecularcasestudies.cshlp.org
Using whole-exome sequencing, we identified homozygous mutations in two unlinked
genes, SEC23A c. 1200G> C (p. M400I) and MAN1B1 c. 1000C> T (p. R334C), associated …

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

C Prasad, SB Melançon, CA Rupar, AN Prasad… - Molecular Genetics and …, 2013 - Elsevier
Three deceased infants from a Pakistani consanguineous family presented with a similar
phenotype of cholestatic liver disease, hypotonia, severe failure to thrive, recurrent vomiting …

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

ML Illson, L Dempsey-Nunez, J Kent, Q Huang… - Molecular genetics and …, 2013 - Elsevier
Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial
enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B 12 …

Spectrum of mutations in MMAA identified by high resolution melting analysis/Dempsey Nunez, Laura.

L Dempsey Nunez - 2012 - library-archives.canada.ca
Abstract" The gene product of MMAA is required for the intracellular metabolism of
cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by …