Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 5

Results: 11

A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 415, doi. 10.1023/A:1020116220624

By:

Ip, P.;
HGoh, W.;
Chan, K.;
Cheung, P.

Publication type:

Article

Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 413, doi. 10.1023/A:1020164103786

By:

Raupp, P.;
Keenan, C.;
Dowman, M.;
Nath, R.;
Hertecant, J.

Publication type:

Article

Cytochrome oxidase deficiency in Lowe syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 411, doi. 10.1023/A:1020112119716

By:

Cifelli, P.;
Hargreaves, I.;
Grünewald, S.

Publication type:

Article

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 399, doi. 10.1023/A:1020108002877

By:

Kleijer, W.;
Garritsen, V.;
Linnebank, M.;
Mooyer, P.;
Huijmans, J.;
Mustonen, A.;
Simola, K.;
Arslan-Kirchner, M.;
Battini, R.;
Briones, P.;
Cardo, E.;
Mandel, H.;
Tschiedel, E.;
Wanders, R.;
Koch, H.

Publication type:

Article

Pamidronate treatment improves bone mineral density in children with Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 391, doi. 10.1023/A:1020103901969

By:

Kanumakala, S.;
Boneh, A.;
Zacharin, M.

Publication type:

Article

Identification of novel mutations in the NPC1 gene in German patients with Niemann–Pick C disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 385, doi. 10.1023/A:1020151801060

By:

Kaminski, W.;
Klünemann, H.;
Ibach, B.;
Aslanidis, C.;
Klein, H.;
Schmitz, G.

Publication type:

Article

A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 379, doi. 10.1023/A:1020147716990

By:

Odièvre, M.;
Lombès, A.;
Dessemme, P.;
Santer, R.;
Brivet, M.;
Chevallier, B.;
Lagardère, B.

Publication type:

Article

Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome- c oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 371, doi. 10.1023/A:1020195616081

By:

Lev, D.;
Gilad, E.;
Leshinsky-Silver, E.;
Houri, S.;
Levine, A.;
Saada, A.;
Lerman-Sagie, T.

Publication type:

Article

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 363, doi. 10.1023/A:1020143632011

By:

Rahbeeni, Z.;
Vaz, F.;
Al-Hussein, K.;
Bucknall, M.;
Ruiter, J.;
Wanders, R.;
Rashed, M.

Publication type:

Article

Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 347, doi. 10.1023/A:1020191515173

By:

Yannicelli, S.;
Medeiros, D.

Publication type:

Article

Phenylketonuria in adulthood: A collaborative study.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 333, doi. 10.1023/A:1020158631102

By:

Koch, R.;
Burton, B.;
Hoganson, G.;
Peterson, R.;
Rhead, W.;
Rouse, B.;
Scott, R.;
Wolff, J.;
Stern, A.;
Guttler, F.;
Nelson, M.;
de la Cruz, F.;
Coldwell, J.;
Erbe, R.;
Geraghty, M.;
Shear, C.;
Thomas, J.;
Azen, C.

Publication type:

Article