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kw.\*:("Aminoacidopathie")

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Diagnosis of variant forms of hyperphenylalaninemia using filter paper spots of urineNARISAWA, K; HAYAKAWA, H; ARAI, N et al.The Journal of pediatrics. 1983, Vol 103, Num 4, pp 577-579, issn 0022-3476Article

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblastsDUBIEL, B; DABROWSKI, C; WETTS, R et al.The Journal of clinical investigation. 1983, Vol 72, Num 5, pp 1543-1552, issn 0021-9738Article

Dietary management of phenylketonuria from birth using a phenylalanine-free productFLANNERY, D. B; HITCHCOCK, E; MAMUNES, P et al.The Journal of pediatrics. 1983, Vol 103, Num 2, pp 247-249, issn 0022-3476Article

Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactionsDORLAND, L; DURAN, M; WADMAN, S. K et al.Clinica chimica acta. 1983, Vol 134, Num 1-2, pp 77-83, issn 0009-8981Article

A new case of hyperlysinaemia with saccharopinuriaVIANEY-LIAUD, C; ROLLAND, M. O; DIVRY, P et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 265-267, issn 0141-8955, suppl. 2Conference Paper

Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuriaBOULIEU, R; BORY, C; BALTASSAT, P et al.Clinica chimica acta. 1984, Vol 142, Num 1, pp 83-89, issn 0009-8981Article

A case of transient neonatal citrullinemiaOHTAKE, A; TAKAYANAGI, M; OGURA, N et al.European journal of pediatrics. 1983, Vol 141, Num 1, pp 60-61, issn 0340-6199Article

Newborn screening for phenylketonuria: predictive validity as a function of ageMCCABE, E. R. B; MCCABE, L; MOSHER, G. A et al.Pediatrics (Evanston). 1983, Vol 72, Num 3, pp 390-398, issn 0031-4005Article

Presentation of the data of the italian registry for oculocutaneous tyrosinaemiaFOIS, A; BORGOGNI, P; ROMANO, C et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 262-264, issn 0141-8955, suppl. 2Conference Paper

Persistent Tyrosinemia associated with low activity of tyrosine aminotransferaseANDERSSON, S; NEMETH, A; OHISALO, J et al.Pediatric research. 1984, Vol 18, Num 7, pp 675-678, issn 0031-3998Article

Tyrosinemia and intractable seizuresSESHIA, S. S; PERRY, T. L; DAKSHINAMURTI, K et al.Epilepsia (Copenhagen). 1984, Vol 25, Num 4, pp 457-463, issn 0013-9580Article

The clinical presentation of organoacidopathies―When to investigateKOHLSCHÜTTER, A.Neuropediatrics. 1983, Vol 14, Num 4, pp 191-196, issn 0174-304XArticle

Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitutionLINDBLAD, B; FRIDEN, J; GRETER, J et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 257-261, issn 0141-8955, suppl. 2Conference Paper

3-Methylglutaconic aciduria in two infantsHAGBERG, B; HJALMARSON, O; LINDSTEDT, S et al.Clinica chimica acta. 1983, Vol 134, Num 1-2, pp 59-67, issn 0009-8981Article

N-isovalerylalanine and N-isovalerylsarcosine: two new minor metabolites in isovaleric acidemiaLEHNERT, W.Clinica chimica acta. 1983, Vol 134, Num 1-2, pp 207-212, issn 0009-8981Article

Successfull dietary control of tyrosinemia IIMACHINO, H; MIKI, Y; KAWATSU, T et al.Journal of the American Academy of Dermatology. 1983, Vol 9, Num 4, pp 533-539, issn 0190-9622Article

HEREDITARY TYROSINAEMIA. CLINICAL, ENZYMATIC, AND PATHOLOGICAL STUDY OF AN INFANT WITH THE ACUTE FORM OF THE DISEASECARSON NAJ; BIGGART JD; BITTLES AH et al.1976; ARCH. DIS. CHILDH.; G.B.; DA. 1976; VOL. 51; NO 2; PP. 106-113; BIBL. 30 REF.Article

IMPROVED HIGH-RESOLUTION HIGH-VOLTAGE PAPER ELECTROPHORESIS SYSTEM FOR USE IN SCREENING FOR AMINOACIDOPATHIES. = SYSTEME AMELIORE D'ELECTROPHORESE SUR PAPIER EN HAUTE TENSION DE RESOLUTION ELEVEE A L'USAGE DU DEPISTAGE DES AMINOACIDOPATHIESSPIEKERMAN AM; HETHERLY ME; HALL FF et al.1975; CLIN. CHEM.; U.S.A.; DA. 1975; VOL. 21; NO 13; PP. 1980-1982; BIBL. 12 REF.Article

PHENYLKETONURIA AND ITS VARIANTS.KAUFMAN S; MILSTIEN S.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 2; PP. 178-185; BIBL. 31 REF.Article

L'OMOCISTINURIA. SINTESI CLINICA E DESCRIZIONE DI UN CASO = L'HOMOCYSTINURIE. REVUE CLINIQUE ET DESCRIPTION D'UN CASZAMMARCHI E; BORGHERESI S.1976; MINERVA PEDIATR.; ITAL.; DA. 1976; VOL. 28; NO 12; PP. 730-742; ABS. ANGL.; BIBL. 2 P.Article

LYSINURIC PROTEIN INTOLERANCE.SIMELL O; PERHEENTUPA J; RAPOLA J et al.1975; AMER. J. MED.; U.S.A.; DA. 1975; VOL. 59; NO 2; PP. 229-240; BIBL. 36 REF.Article

TROUBLES DU METABOLISME DE L'ALANINEVULOVIC D; MARJANOVIC B; STOJANOV L et al.1975; JUGOSL. PEDIJATR.; JUGOSL.; DA. 1975; VOL. 18; NO 1; PP. 7-18; ABS. ANGL.; BIBL. 3 P.Article

NEONATAL SCREENING FOR INBORN ERRORS OF AMINO ACID METABOLISM = RECHERCHE NEONATALE DES ERREURS HEREDITAIRES DU METABOLISME DES ACIDES AMINESLEVY HL.1974; CLIN. ENDOCRINOL. METABOL.; G.B.; DA. 1974; VOL. 3; NO 1; PP. 153-166; BIBL. 1P.Article

TENTATIVES THERAPEUTIQUES DANS LES AMINOACIDOPATHIESSAUDUBRAY JM; BOISSE J.1974; ANN. BIOL. CLIN.; FR.; DA. 1974; VOL. 32; NO 5; PP. 461-471; ABS. ANGL.; BIBL. 1 P.Article

CYSTINOSIS IN A BLACK CHILDJONAS AJ; SHCNEIDER JA.1982; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1982; VOL. 100; NO 6; PP. 934-935; BIBL. 5 REF.Article

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