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A practical approach to the investigation of amino acid disordersEDWARDS, M. A; GRANT, S; GREEN, A et al.Annals of clinical biochemistry. 1988, Vol 25, Num 2, pp 129-141, issn 0004-5632Article

Dosage de l'homocystéine plasmatique dans l'exploration des thromboses du sujet jeune = Plasma homocysteine assay in the exploration of thrombosis in young subjectsBIENVENU, T; ANKRI, A; CHADEFAUX, B et al.La Presse médicale (1983). 1991, Vol 20, Num 21, pp 985-988, issn 0755-4982Article

Les panniculites asociées à un déficit en alpha-1-antitrypsine : discussion nosologique = The association of panniculitis with alpha-1-antitrypsin deficiency: a nosological problemWATER, A; STORCK, D; WARTER, J et al.La Semaine des hôpitaux de Paris. 1990, Vol 66, Num 28-29, issn 0037-1777, p. 1709Article

A propos de deux cas de tyrosinose de type II (syndrome de Richner-Hanhart) = About two cases of tyrosinosis II (Richner-Hanhart syndrome)ROUSSAT, B; FOURNIER, F; BESSON, D et al.Bulletin des sociétés d'ophtalmologie de France. 1988, Vol 88, Num 6-7, pp 751-757, issn 0081-1270Article

Créatininémie dans la polykystose rénale compliquée d'hypertension artérielle : rôle du contrôle de la pression artérielle = Evolution of creatinine levels in polycystic kidney disease complicated by hypertension. Is it affected by blood pressure control?ABDELRHAMANE, M; JEUNEMAITRE, X; PLOUIN, P. F et al.La Presse médicale (1983). 1990, Vol 19, Num 39, pp 1801-1804, issn 0755-4982Article

Evaulation of a taurine containing amino acid solution in parenteral nutritionTHORNTON, L; GRIFFIN, E.Archives of disease in childhood. 1991, Vol 66, Num 1, pp 21-25, issn 0003-9888, SUPArticle

Screening for inborn errors of amino acid metabolismWU, J. T.Annals of clinical and laboratory science. 1991, Vol 21, Num 2, pp 123-142, issn 0091-7370Article

Aspartame-sweetened beverage: effect on plasma amino acid concentrations in normal adults and adults heterozygous for phenylketonuriaSTEGINK, L. D; WOLF-NOVAK, L. C; FILER, L. J. JR et al.The Journal of nutrition. 1987, Vol 117, Num 11, pp 1989-1995, issn 0022-3166Article

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric methodWANDERS, R. J. A; SCHUTGENS, R. B. H; ZOETERS, P. H. M et al.Clinica chimica acta. 1988, Vol 171, Num 1, pp 95-101, issn 0009-8981Article

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplementDIONISI VICI, C; BACHMANN, C; GAMBARARA, M et al.Pediatric research. 1987, Vol 22, Num 3, pp 364-367, issn 0031-3998Article

Optimising growth in phenylketonuria: Current state of the clinical evidence baseDOKOUPIL, Katharina; GOKMEN-OZEL, Hulya; LAMMARDO, Anna Maria et al.Clinical nutrition (Edinburgh). 2012, Vol 31, Num 1, pp 16-21, issn 0261-5614, 6 p.Article

Neuroimaging findings in glutaric aciduria type 1TWOMEY, Eilish L; NAUGHTEN, Eileen R; DONOGHUE, Veronica B et al.Pediatric radiology. 2003, Vol 33, Num 12, pp 823-830, issn 0301-0449, 8 p.Article

Peroxidation indices and total antioxidant capacity in plasma during hyperhomocysteinemia induced by methionine oral loadingVENTURA, P; PANINI, R; VERLATO, C et al.Metabolism, clinical and experimental. 2000, Vol 49, Num 2, pp 225-228, issn 0026-0495Article

3-Methylglutaconic aciduria : ten new cases with a possible new phenotypeAL AQEEL, A; RASHED, M; OZAND, P. T et al.Brain & development (Tokyo. 1979). 1994, Vol 16, pp 23-32, issn 0387-7604, SUPArticle

Redox status and protein binding of plasma homocysteine and other aminothiols in patients with hyperhomocysteinemia due to cobalamin deficiencyMANSOOR, M. A; UELAND, P. M; SVARDAL, A. M et al.The American journal of clinical nutrition. 1994, Vol 59, Num 3, pp 631-635, issn 0002-9165Article

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency : a report of 16 casesCOSKUN, T; ÖZALP, I; TOKATLI, A et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 605-607, issn 0141-8955Article

Les leucinoses ou maladie du sirop d'érable = Leucinosis or maple sirup diseaseHARBI, A.MHA (Sousse). 1993, Vol 5, Num 12, pp 7-11, issn 0330-8030Conference Paper

Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dhydrogenase deficiencyRIBES, A; RIUDOR, E; NAVARRO, C et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 2, pp 278-279, issn 0141-8955Article

A treatment program for adolescents with phenylketonuriaGLEASON, L. A; MICHALS, K; MATALON, R et al.Clinical pediatrics. 1992, Vol 31, Num 6, pp 331-335, issn 0009-9228Article

Methylmalonic aciduria presenting in an adultGERHARDT, M; BURKE, E. M; BRANDT, I. K et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 1, pp 113-114, issn 0141-8955, 2 p.Article

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency : biochemical studies and family investigation of four generationsBARASH, V; MANDEL, H; SELLA, S et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 2, pp 156-164, issn 0141-8955, 9 p.Article

CystinuriaMILLINER, D. S.Endocrinology and metabolism clinics of North America. 1990, Vol 19, Num 4, pp 889-907, issn 0889-8529, 19 p.Article

Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiencyWOODY, R. C; BREWSTER, M. A.Developmental medicine and child neurology (Print). 1990, Vol 32, Num 7, pp 639-642, issn 0012-1622Article

Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age. IMÖNCH, E; KNEER, J; JAKOBS, C et al.European journal of pediatrics. 1990, Vol 149, pp S17-S24, issn 0340-6199, SUP1Article