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Science (New York, N.Y.)|June 14, 1985
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolismD S Rosenblatt, A Hosack, N V Matiaszuk, et al.
Pediatrics|July 1, 1986
New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduriaD S Rosenblatt, R Laframboise, J Pichette, et al.
The British Journal of Ophthalmology|September 1, 1990
11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three casesV Jotterand, H M Boisjoly, C Harnois, et al.
Teratology|April 3, 2001
Recurrent cleft lip and palate in siblings of a patient with malabsorption syndrome, probably caused by hypovitaminosis a associated with folic acid and vitamin B(2) deficienciesG Faron, R Drouin, L Pedneault, et al.
Diabete & Metabolisme|May 1, 1990
[Hypocarnitinemia in patients affected by a primary defect of ammonia metabolism treated with sodium benzoate]A Michalak, M A Lambert, L Dallaire, et al.
Neuropediatrics|May 28, 2008
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxiaF-G Debray, M Lambert, R Gagne, et al.
Prenatal Diagnosis|May 1, 1996
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemiaR Mandell, S Packman, R Laframboise, et al.
The Journal of Pediatrics|June 4, 1999
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening programL C Sniderman, M Lambert, R Giguère, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experienceK C Carter, S Byck, P J Waters, et al.
American Journal of Human Genetics|July 1, 1992
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in FranceS Lyonnet, D Melle, M de Braekeleer, et al.
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