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Decreased uptake of L-cystine by duodenal brush border membrane vesicles from patients with cystinuriaFURLONG, T. J; STIEL, D.Australian and New Zealand journal of medicine. 1993, Vol 23, Num 3, pp 258-263, issn 0004-8291Conference Paper

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

Quadro clínico de doença de Hartnup. Sem aminoaciduria ou outra alteração metabólica identificada (entidade Nova) = Hartnup clinical manifestations without aminoaciduria nor other metabolic alterationRIBEIRO DA GLORIA, E; GONTIJO ASSUNCAO, J; ARAUJO COSTA, M et al.Medicina cutánea ibero-latino-americana. 1990, Vol 18, Num 4, pp 227-231, issn 0210-5187, 5 p.Article

Les urgences en génétique : diagnostic clinique des aminoacidopathies à révélation aiguë tardive = «Genetic emergencies»: Clinical diagnosis of aminoacidopathy with acute adult appearanceSAUDUBRAY, J. M; LYONNET, S; LOMBES, A et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 299-310, issn 0021-7743, 12 p.Article

Myalgies et hyperéosinophilie liées au L-tryptophane = Myalgia-eosinophilia syndrome induced by L-tryptophan supplementsHAAS, C; DUHURT, S; LOWENSTEIN, W et al.La Semaine des hôpitaux de Paris. 1990, Vol 66, Num 48-49, pp 2727-2731, issn 0037-1777Article

Protéinurie de découverte fortuite : prévalence et évolution = Fortuitously discovered proteinuria: prevalence and courseM'RAD, S; BEN HAMIDA, A; ENNAFAA, M et al.La Semaine des hôpitaux de Paris. 1990, Vol 66, Num 32, pp 1815-1819, issn 0037-1777Article

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

L'hypodermoclyse ou perfusion sous-cutanée d'acides aminés. Un complément nutritionel en gériatrieFERRY, M; FICHTER, C; FOURNIS, Y et al.Médecine et hygiène. 1990, Vol 48, Num 1841, pp 1533-1537, issn 0025-6749, 3 p.Article

Recomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenalCOUCE, M. L; ALDAMIZ-ECHEVARRIA, L; LEAO, E et al.Anales de pediatria (2003. Ed. impresa). 2010, Vol 73, Num 5, issn 1695-4033, p. 279Article

The anion gap : a reappraisalBADRICK, T; HICKMAN, P. E.American journal of clinical pathology. 1992, Vol 98, Num 2, pp 249-252, issn 0002-9173Article

Effect of sodium D-3-hydroxybutyrate on amino acidemia in hemorrhagic hypotensionHIRAIDE, A; KATAYAMA, M; MIZOBATA, Y et al.European surgical research. 1991, Vol 23, Num 3-4, pp 250-255, issn 0014-312XArticle

Non-ketotic hyperglycinaemia : a new case with late onsetLEUZZI, V; MORANO, S; MORETTI, F et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 2, issn 0141-8955, p. 238Article

A non-enzymatic method for identification of citrullinemia heterozygotesCLEMENS, P. C.Clinical genetics. 1989, Vol 35, Num 6, pp 468-469, issn 0009-9163, 2 p.Article

Etats sclérodermiformes et phénylcétonurie (PKU): rôle de l'hyperphénylalaninémie, efficacité du régime ? (3 cas) = Scleroderma-like lesions and phenylketonuria. Efficacy of phenylalanine, restricted diet (3 cases)BODEMER, C; BONNEFONT, J. P; SAUDUBRAY, J. M et al.Annales de dermatologie et de vénéréologie. 1989, Vol 116, Num 11, pp 798-800, issn 0151-9638, 3 p.Conference Paper

Cardiovascular ochronosisGAINES, J. J. JR; PAI, G. M.Archives of pathology & laboratory medicine (1976). 1987, Vol 111, Num 10, pp 991-994, issn 0363-0153Article

PhenylketonuriaKOCH, R; WENZ, E.Annual review of nutrition. 1987, Vol 7, pp 117-135, issn 0199-9885Article

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

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