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Journal of Inherited Metabolic Disease|January 1, 1983
Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolismA Chappel, R D Scholem, G K Brown, et al.Journal of Clinical Microbiology|September 1, 1986
Comparison between children treated at home and those requiring hospital admission for rotavirus and other enteric pathogens associated with acute diarrhea in Melbourne, AustraliaG A Pitson, K Grimwood, B S Coulson, et al.Human Genetics|March 1, 1990
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndromeM Schmidt, A Certoma, D Du Sart, et al.The Journal of Clinical Investigation|January 1, 1990
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypesF Endo, A Tanoue, A Kitano, et al.European Journal of Pediatrics|January 1, 1988
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosisG K Brown, E A Haan, D M Kirby, et al.The Journal of Pediatrics|October 1, 1977
Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiencyL J Sheffield, P Schlesinger, K Faull, et al.Annals of Neurology|March 1, 1996
Leigh syndrome: clinical features and biochemical and DNA abnormalitiesS Rahman, R B Blok, H H Dahl, et al.Molecular Genetics and Metabolism|November 14, 2000
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuriaK Tomoeda, H Awata, T Matsuura, et al.The Journal of Pediatrics|June 1, 1987
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical casesK Hayasaka, K Tada, N Fueki, et al.The New England Journal of Medicine|February 26, 1976
Dihydrofolate reductase deficiency causing megaloblastic anemia in two familiesG P Tauro, D M Danks, P B Rowe, et al.Pageof 19