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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

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

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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

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NEWBORN PHENYLALANINE/TYROSINE METABOLISM: IMPLICATIONS FOR SCREENING FOR PHENYLKETONURIASCHNEIDER AJ.1983; AMERICAN JOURNAL OF DISEASES OF CHILDREN; ISSN 0002-922X; USA; DA. 1983; VOL. 137; NO 5; PP. 427-432; BIBL. 16 REF.Article

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COMPILATION OF GAS CHROMATOGRAPHIC RETENTION INDICES OF 163 METABOLICALLY IMPORTANT ORGANIC ACIDS, AND THEIR USE IN DETECTION OF PATIENTS WITH ORGANIC ACIDURIASTANAKA K; HINE DG.1982; J. CHROMATOGR.; ISSN 0021-9673; NLD; DA. 1982; VOL. 239; PP. 301-322; BIBL. 68 REF.Conference Paper

NON-KETOTIC HYPERGLYCINEMIA: A CASE REPORTMEHARBAN SINGH; GHAI OP.1975; INDIAN PEDIATR.; INDIA; DA. 1975; VOL. 12; NO 2; PP. 197-199; BIBL. 7REF.Article

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ACCUMULATION OF CYSTINE FROM GLUTATHIONE-CYSTEINE MIXED DISULFIDE IN CYSTINOTIC FIBROBLASTS; BLOCKADE BY AN INHIBITOR OF GAMMA -GLUTAMYL TRANSPEPTIDASEBUTLER J; SPIELBERG SP.1982; LIFE SCIENCES(1973); ISSN 0024-3205; GBR; DA. 1982; VOL. 31; NO 23; PP. 2563-2570; BIBL. 19 REF.Article

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