Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 4

Results: 13

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 268, doi. 10.1023/A:1016575029687
Publication type:: Article

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 328, doi. 10.1023/A:1016522912849

By:

Funghini, S.;
Donati, M.A.;
Pasquini, E.;
Gasperini, S.;
Ciani, F.;
Morrone, A.;
Zammarchi, E.

Publication type:

Article

A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 325, doi. 10.1023/A:1016570828778

By:

Benelli, C.;
Fouque, F.;
Redonnet-Vernhet, I.;
Malgat, M.;
Fontan, D.;
Marsac, C.;
Dey, R.

Publication type:

Article

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 323, doi. 10.1023/A:1016518811940

By:

Horvath, J.;
Horvath, R.;
Karcagi, V.;
Komoly, S.;
Johns, D.

Publication type:

Article

Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 321, doi. 10.1023/A:1016514727870

By:

Weglage, J.;
Grenzebach, M.;
Teeffelen-Heithoff, A.;
Marquardt, T.;
Feldmann, R.;
Denecke, J.;
Gödde, D.;
Koch, H.

Publication type:

Article

Sandhoff disease in a golden retriever dog.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 319, doi. 10.1023/A:1016562626961

By:

Yamato, O.;
Matsuki, N.;
Satoh, H.;
Inaba, M.;
Ono, K.;
Yamasaki, M.;
Maede, Y.

Publication type:

Article

Pregnancy and tyrosinaemia type II.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 317, doi. 10.1023/A:1016558510123

By:

Cerone, R.;
Fantasia, A.;
Castellano, E.;
Moresco, L.;
Schiaffino, M.;
Gatti, R.

Publication type:

Article

Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 316, doi. 10.1023/A:1016554409214

By:

Boles, R.

Publication type:

Article

Reproductive fitness in maternal homocystinuria due to cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 299, doi. 10.1023/A:1016502408305

By:

Levy, H.;
Vargas, J.;
Waisbren, S.;
Kurczynski, T.;
Roeder, E.;
Schwartz, R.;
Rosengren, S.;
Prasad, C.;
Greenberg, C.;
Gilfix, B.;
MacGregor, D.;
Shih, V.;
Bao, L.;
Kraus, J.

Publication type:

Article

Neurotransmitter metabolites in CSF: An external quality control scheme.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 287, doi. 10.1023/A:1016550324235

By:

Bräutigam, C.;
Weykamp, C.;
Hoffmann, G.;
Wevers, R.

Publication type:

Article

Cardiac involvement in Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 269, doi. 10.1023/A:1016546223327

By:

Hlubocká, Z.;
Mareček, Z.;
Linhart, A.;
Kejřová, E.;
Pospíšilová, L.;
Martásek, P.;
Aschermann, M.

Publication type:

Article

Intestinal function in glycogen storage disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 261, doi. 10.1023/A:1016572706488

By:

Visser, G.;
Rake, J.;
Kokke, F.;
Nikkels, P.;
Sauer, P.;
Smit, G.

Publication type:

Article

A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 279, doi. 10.1023/A:1016598207397

By:

Gross, U.;
Puy, H.;
Meissauer, U.;
Lamoril, J.;
Deybach, J.;
Doss, M.;
Nordmann, Y.

Publication type:

Article