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

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

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

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

The relationship between the branched chain amino acids and their α-ketoacids in maple syrup urine diseaseSNYDERMAN, S. E; GOLDSTEIN, F; SANSARICQ, C et al.Pediatric research. 1984, Vol 18, Num 9, pp 851-853, issn 0031-3998Article

Dépistage néonatal de la phénylcétonurie et de l'hypothyroïdie = Neonatal screening for phenylketonuria and hypothyroidismArchives françaises de pédiatrie. 1983, Vol 40, Num 7, pp 597-600, issn 0003-9764Article

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

Das Torsten-Sjögren-Syndrom = The Torsten-Sjögren syndromeRISTER, M; RUDOLPH, W; LEMMEN, K et al.Monatsschrift für Kinderheilkunde. 1984, Vol 132, Num 3, pp 180-181, issn 0026-9298Article

Homocistinuria. Presentación de un caso = Homocystiurie. A propos d'une observation = Homocystinuria. Presentation of one caseSARDINAS HERNANDEZ, N; CASANOVA SOTOLONGO, P; CABALLERO POO, G et al.Revista cubana de pediatría. 1983, Vol 55, Num 3, pp 342-345, issn 0034-7531Article

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