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Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.
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.
The Biochemical Journal|August 1, 1994
Freeze-stable sialidase activity in human leucocytes: substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localizationP J Waters, A P Corfield, R Eisenthal, 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 Human Genetics|May 1, 1987
The Hartnup phenotype: Mendelian transport disorder, multifactorial diseaseC R Scriver, B Mahon, H L Levy, 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.
Diabetologia|October 1, 1992
Increases in plasma lysosomal enzymes in type 1 (insulin-dependent) diabetes mellitus: relationship to diabetic complications and glycaemic controlP J Waters, M D Flynn, R J Corrall, et al.
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