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Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyaseC N Sarkissian, Z Shao, F Blain, et al.
The Journal of Pediatrics|September 1, 1996
Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbateE Treacy, L Arbour, P Chessex, et al.
Pediatric Research|July 1, 1975
Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependencyT M Reade, C R Scriver, F H Glorieux, et al.
Pediatric Research|March 1, 1980
Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndromeR W Chesney, B S Kaplan, E Colle, et al.
American Journal of Medical Genetics|April 1, 1983
Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemiaD E Cole, F C Fraser, F H Glorieux, et al.
Annals of Human Genetics|January 11, 2008
The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East EnglandP Hardelid, M Cortina-Borja, A Munro, et al.
Human Mutation|December 29, 1999
PAHdb: a locus-specific knowledgebaseC R Scriver, P J Waters, C Sarkissian, 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.
The Journal of Clinical Endocrinology and Metabolism|March 1, 1981
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralizationT Costa, P J Marie, C R Scriver, et al.
Pediatric Neurology|October 1, 1994
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiencyM I Shevell, P M Matthews, C R Scriver, et al.
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