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
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
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