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

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

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

Intermediäre Form einer Ahornsirupkrankheit = Forme intermédiaire de maladie au sirop d'érable = An intermediate form of maple syrup diseaseRITTINGER, O; BACHMANN, C; IRNBERGER, T et al.Klinische Pädiatrie. 1986, Vol 198, Num 1, pp 37-43, issn 0300-8630Article

Failure of early diazepam treatment in a neonate with non-ketotic hyperglycinaemiaAUKETT, A; BRAITHWAITE, R. A; GREEN, A et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 268-271, issn 0141-8955, suppl. 2Conference Paper

Maternal hyperphenylalaninaemia in IsraelCOHEN, B. E; SZEINBERG, A; ZARFIN, Y et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 227-230, issn 0141-8955, suppl. 2Conference Paper

Tyrosinemia II: a large North Carolina kindredGOLDSMITH, L. A.Archives of internal medicine (1960). 1985, Vol 145, Num 9, pp 1697-1700, issn 0003-9926Article

A patient with sarcosinaemiaVAN SPRANG, F. J; DURAN, M; SCHOLTEN, H. G et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 4, pp 404-405, issn 0141-8955Article

Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defectHAAN, E. A; KIRBY, D. M; TADA, K et al.European journal of pediatrics. 1986, Vol 145, Num 4, pp 267-270, issn 0340-6199Article

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiencyDHONDT, J.-L; FARRIAUX, J.-P; ABDENNACER BOUDHA et al.The Journal of pediatrics. 1985, Vol 106, Num 6, pp 954-956, issn 0022-3476Article

Hepatic methionine adenosyltransferase deficiency in a 31-year-old manGAHL, W. A; FINKELSTEIN, J. D; MULLEN, K. D et al.American journal of human genetics. 1987, Vol 40, Num 1, pp 39-49, issn 0002-9297Article

Hereditary tyrosinemia type I: an overviewKVITTINGEN, E. A.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 27-34, issn 0085-591XArticle

Dihydropteridine reductase deficiency: clinical, biochemical and therapeutic aspectsCERONE, R; SCALISI, S; COTELLESSA, M et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 244-246, issn 0141-8955, suppl. 2Conference Paper

Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic aciduriasILES, R. A; HIND, A. J; CHALMERS, R. A et al.Clinical chemistry (Baltimore, Md.). 1985, Vol 31, Num 11, pp 1795-1801, issn 0009-9147Article

Homocysteinemia: depressed plasma serine levelsDUDMAN, N. P. B; TYRRELL, P. A; WILCKEN, D. E. L et al.Metabolism, clinical and experimental. 1987, Vol 36, Num 2, pp 198-201, issn 0026-0495Article

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a reviewWYSOCKI, S. J; HAHNEL, R.Journal of inherited metabolic disease. 1986, Vol 9, Num 3, pp 225-233, issn 0141-8955Article

An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyaseLARUE, C; MUNNICH, A; CHARPENTIER, C et al.Developmental pharmacology and therapeutics. 1986, Vol 9, Num 2, pp 73-81, issn 0379-8305Article

Elevated temperature produces cystine depletion in cystinotic fibroblastsLEMONS, R. M; PISONI, R. L; CHRISTENSEN, H. N et al.Biochimica et biophysica acta. 1986, Vol 884, Num 3, pp 429-434, issn 0006-3002Article

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiencyBATSHAW, M. L; MSALL, M; BEAUDET, A. L et al.The Journal of pediatrics. 1986, Vol 108, Num 2, pp 236-241, issn 0022-3476Article

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetaseKVITTINGEN, E. A; BRODTKORB, E.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 35-40, issn 0085-591XArticle

Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolismJELLUM, E; HORN, L; THORESEN, O et al.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 21-26, issn 0085-591XArticle

Bilan de 6 années de dépistage des hyperphénylalaninémies par déficit en cofacteur = Screening for cofactor deficiency-induced hyperphenyl alanineuria: evaluatia of a 6 year-experienceDHONDT, J. L; FARRIAUX, J. P; HAYTE, J. M et al.Archives françaises de pédiatrie. 1986, Vol 43, Num 10, pp 785-789, issn 0003-9764Article

5-hydroxy-L-lysine excretion in cystnuriaROESEL, R. A; BLANKENSHIP, P. R; GANAPATHY, V et al.Journal of inherited metabolic disease. 1985, Vol 8, Num 3, pp 123-126, issn 0141-8955Article

Human salivary arginase and its deficiency in argininaemiaKONARSKA, L; TOMASZEWSKI, L; COLOMBO, J. P et al.Journal of clinical chemistry and clinical biochemistry. 1985, Vol 23, Num 6, pp 337-342, issn 0340-076XArticle

Ochronotic cardiovascular diseasePTACIN, M; SEBASTIAN, J; BAMRAH, V. S et al.Clinical cardiology (Mahwah, NJ). 1985, Vol 8, Num 8, pp 441-445, issn 0160-9289Article