Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 7

Results: 12

Phenylketonuria–Present Knowledge and Future Challenges.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 605, doi. 10.1023/A:1022059811203
Publication type:: Article

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 603, doi. 10.1023/A:1022007827133

By:

Fairbanks, L.;
Marinaki, A.;
Carrey, E.;
Hammans, S.;
Duley, J.

Publication type:

Article

G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 601, doi. 10.1023/A:1022055710295

By:

Orimo, H.;
Shin, Y.;
Shimada, T.

Publication type:

Article

Newborn screening compared to clinical identification of biochemical genetic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 599, doi. 10.1023/A:1022003726224

By:

Waisbren, S.;
Read, C.;
Ampola, M.;
Brewster, T.;
Demmer, L.;
Greenstein, R.;
Ingham, C.;
Korson, M.;
Msall, M.;
Pueschel, S.;
Seashore, M.;
Shih, E.;
Levy, H.

Publication type:

Article

Contributions to the MODY5 phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 597, doi. 10.1023/A:1022051609386

By:

Søvik, O.;
Sagen, J.;
Njølstad, P.;
Nyland, H.;
Myhr, K.-M.

Publication type:

Article

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 593, doi. 10.1023/A:1022099425316

By:

Chien, Y.-H.;
Chu, S.-Y.;
Hsu, C.-C.;
Hwu, W.-L.

Publication type:

Article

Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 585, doi. 10.1023/A:1022047408477

By:

Muramatsu, T.;
Sakai, N.;
Yanagihara, I.;
Yamada, M.;
Nishigaki, T.;
Kokubu, C.;
Tsukamoto, H.;
Ito, M.;
Inui, K.

Publication type:

Article

Glutathione synthetase deficiency: Is γ-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 577, doi. 10.1023/A:1022095324407

By:

Ristoff, E.;
Hebert, C.;
Njålsson, R.;
Norgren, S.;
Rooyackers, O.;
Larsson, A.

Publication type:

Article

Simple method for detection of mutations causing hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 571, doi. 10.1023/A:1022043307569

By:

Kullberg-Lindh, C.;
Hannoun, C.;
Lindh, M.

Publication type:

Article

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 557, doi. 10.1023/A:1022091223498

By:

Zeng, B.;
Wang, Z.;
Ribeiro, L.;
Leone, P.;
De Gasperi, R.;
Kim, S.;
Raghavan, S.;
Ong, E.;
Pastores, G.;
Kolodny, E.

Publication type:

Article

Glucose-free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 547, doi. 10.1023/A:1022039206660

By:

Renaud, D.;
Edwards, V.;
Wilson, G.;
Tein, I.

Publication type:

Article

Emergency management of inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 531, doi. 10.1023/A:1022040422590

By:

Prietsch, V.;
Lindner, M.;
Zschocke, J.;
Nyhan, W.;
Hoffmann, G.

Publication type:

Article