Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 2

Results: 17

Organelle Diseases: clinical features, diagnosis, pathogenesis and management. Edited by D. A. Applegarth, J. E. Dimmick and J. G. Hall.

Published in:

1998

By:

Besley, G.

Publication type:

Book Review

Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 181, doi. 10.1023/A:1005328717095

By:

Weglage, J.;
Wiedermann, D.;
Möller, H.;
Ullrich, K.

Publication type:

Article

Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 179, doi. 10.1023/A:1005376600257

By:

Dhaunsi, G.;
Rahbeeni, Z.;
Al-Essa, M.;
Ozand, P.

Publication type:

Article

Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 177, doi. 10.1023/A:1005324516186

By:

Koga, Y.;
Iwanaga, T.;
Yoshida, I.;
Yoshino, M.;
Kaneko, S.;
Kato, H.

Publication type:

Article

Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 175, doi. 10.1023/A:1005372432116

By:

Yap, S.;
Monavari, A.;
Thornton, P.;
Naughten, E.

Publication type:

Article

Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 173, doi. 10.1023/A:1005304015278

By:

Gücüyener, K.;
Seyrantepe, V.;
Topaloğlu, H.;
Özgüç, M.

Publication type:

Article

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 167, doi. 10.1023/A:1005351927573

By:

Barone, R.;
Carchon, H.;
Jansen, E.;
Pavone, L.;
Fiumara, A.;
Bosshard, N.;
Gitzelmann, R.;
Jaeken, J.

Publication type:

Article

A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 162, doi. 10.1023/A:1005399810735

By:

Osaka, H.;
Sekiguchi, H.;
Inoue, K.;
Ikuta, K.;
Sakakihara, Y.;
Oka, A.;
Onishi, H.;
Miyakawa, T.;
Suzuki, K.;
Kosaka, K.;
Matsuyama, S.

Publication type:

Article

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 155, doi. 10.1023/A:1005347826664

By:

Bruno, C.;
Minetti, C.;
Tang, Y.;
Magalhães, P.;
Santorelli, F.;
Shanske, S.;
Bado, M.;
Cordone, G.;
Gatti, R.;
DiMauro, S.

Publication type:

Article

Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 149, doi. 10.1023/A:1005395709826

By:

Sequeira, J.;
Vellodi, A.;
Vanier, M.;
Clayton, P.

Publication type:

Article

Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 141, doi. 10.1023/A:1005343625756

By:

Parvari, R.;
Shen, J.;
Hershkovitz, E.;
Chen, Y.;
Moses, S.

Publication type:

Article

Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 136, doi. 10.1023/A:1005391508917

By:

Lee, P.;
Harrison, E.;
Jones, M.;
Chalmers, R.;
Leonard, J.;
Whipp, B.

Publication type:

Article

Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 125, doi. 10.1023/A:1005339524847

By:

Griffiths, P.;
Campbell, R.;
Robinson, P.

Publication type:

Article

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 112, doi. 10.1023/A:1005387408009

By:

Kristiansson, B.;
Stibler, H.;
Conradi, N.;
Eriksson, B.;
Ryd, W.

Publication type:

Article

Varicella and varicella immunity in patients with lysinuric protein intolerance.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 103, doi. 10.1023/A:1005335423939

By:

Lukkarinen, M.;
Näntö-Salonen, K.;
Ruuskanen, O.;
Lauteala, T.;
Säkö, S.;
Nuutinen, M.;
Simell, O.

Publication type:

Article

Intravenous immune globulin in lysinuric protein intolerance.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 95, doi. 10.1023/A:1005383307100

By:

Dionisi-Vici, C.;
De Felice, L.;
El Hachem, M.;
Bottero, S.;
Rizzo, C.;
Paoloni, A.;
Goffredo, B.;
Sabetta, G.;
Caniglia, M.

Publication type:

Article

Pregnancy in a woman with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 89, doi. 10.1023/A:1005396823030

By:

Grÿnewald, S.;
Hinrichs, F.;
Wendel, U.

Publication type:

Article