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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

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

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

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

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

VITAMIN-B12-ABHAENGIGE METHYLMALONAZIDAEMIE BEI ZWILLINGEN = LA METHYLMALONACIDEMIE DEPENDANT DE LA VITAMINE B12 CHEZ DES JUMEAUXKARSTEN J; HANSEN HG; HEUER R et al.1983; MONATSSCHRIFT FUER KINDERHEILKUNDE; ISSN 0026-9298; DEU; DA. 1983; VOL. 131; NO 5; PP. 289-292; ABS. ENG; BIBL. 23 REF.Article

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

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

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

GLUTARIC ACIDEMIA TYPE II: CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC CONSIDERATIONSGOODMAN SI; STENE DO; MCCABE ERB et al.1982; JOURNAL OF PEDIATRICS; ISSN 0022-3476; USA; DA. 1982; VOL. 100; NO 6; PP. 946-950; BIBL. 16 REF.Article

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

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

Platelet phenylalanine hydroxylating activity in phenylketonurics and normal controlsUEBELHACK, R; FRANKE, L; KUTTER, D et al.Biochemical medicine. 1985, Vol 34, Num 3, pp 376-379, issn 0006-2944Article

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