Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 1

Results: 18

Red-cell thiamine pyrophosphate levels in hypophosphatasia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 95, doi. 10.1023/A:1005432206528

By:

Iqbal, S.;
Talwar, D.;
Davies, T.

Publication type:

Article

Fatal genetic defect causing Wolman disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 93, doi. 10.1023/A:1005428122457

By:

Mayatepek, E.;
Seedorf, U.;
Wiebusch, H.;
Lenhartz, H.;
Assmann, G.

Publication type:

Article

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 92, doi. 10.1023/A:1005476021549

By:

Popowska, E.;
Ciara, E.;
Rokicki, D.;
Pronicka, E.

Publication type:

Article

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 90, doi. 10.1023/A:1005471904710

By:

Vilarinho, L.;
Chorão, R.;
Cardoso, M.;
Rocha, H.;
Nogueira, C.;
Santorelli, F.

Publication type:

Article

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 88, doi. 10.1023/A:1005467803802

By:

Manning, N.;
Bonham, J.;
Downing, M.;
Edwards, R.;
Olpin, S.;
Pollitt, R.;
Pourfarzam, M.;
Sharrard, M.;
Tanner, M.

Publication type:

Article

Aplastic anaemia in association with Kearns_Sayre syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 86, doi. 10.1023/A:1005415802893

By:

Leung, T.;
Hui, J.;
Shoubridge, E.;
Li, C.;
Chik, K.;
Shing, M.;
Wong, G.;
Yeung, W.;
Yuen, P.

Publication type:

Article

An adult with a non-neuronopathic form of Niemann_Pick C disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 84, doi. 10.1023/A:1005463718823

By:

Fensom, A.;
Grant, A.;
Steinberg, S.;
Ward, C.;
Lake, B.;
Logan, E.;
Hulman, G.

Publication type:

Article

Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 82, doi. 10.1023/A:1005411601985

By:

Topaloglu, A.;
Sansaricq, C.;
Fox, J.;
Bale, A.;
Tuchman, M.;
Desnick, R.

Publication type:

Article

Pyloric stenosis in a boy with non-ketotic hyperglycinaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 81, doi. 10.1023/A:1005459517914

By:

Al-Essa, M.;
Ozand, P.

Publication type:

Article

Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 74, doi. 10.1023/A:1005455401076

By:

Ohura, T.;
Abukawa, D.;
Shiraishi, H.;
Yamaguchi, A.;
Arashima, S.;
Hiyamuta, S.;
Tada, K.;
Iinuma, K.

Publication type:

Article

Severe skeletal complications in Japanese patients with type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 63, doi. 10.1023/A:1005451300167

By:

Ida, H.;
Rennert, O.;
Kato, S.;
Ueda, T.;
Oishi, K.;
Maekawa, K.;
Eto, Y.

Publication type:

Article

Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long-term follow-up.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 50, doi. 10.1023/A:1005447232027

By:

Herskhovitz, E.;
Young, E.;
Rainer, J.;
Hall, C.;
Lidchi, V.;
Chong, K.;
Vellodi, A.

Publication type:

Article

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 43, doi. 10.1023/A:1005495131118

By:

Stroppiano, M.;
Regis, S.;
DiRocco, M.;
Caroli, F.;
Gandullia, P.;
Gatti, R.

Publication type:

Article

The molecular basis of transferase galactosaemia in South African negroids.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 37, doi. 10.1023/A:1005491014280

By:

Manga, N.;
Jenkins, T.;
Jackson, H.;
Whittaker, D.;
Lane, A.

Publication type:

Article

Transport of phytanic acid on lipoproteins in Refsum disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 29, doi. 10.1023/A:1005486913371

By:

Wierzbicki, A.;
Sankaralingam, A.;
Lumb, P.;
Hardman, T.;
Sidey, M.;
Gibberd, F.

Publication type:

Article

The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 19, doi. 10.1023/A:1005434912463

By:

Loeffen, J.;
Smeets, R.;
Smeitink, J.;
Triepels, R.;
Sengers, R.;
Trijbels, F.;
van den Heuvel, L.

Publication type:

Article

Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 9, doi. 10.1023/A:1005482828392

By:

Libert, R.;
Van Hoof, F.;
Thillaye, M.;
Vincent, M.-F.;
Nassogne, M.-C.;
Stroobant, V.;
de Hoffmann, E.;
Schanck, A.

Publication type:

Article

3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 1, doi. 10.1023/A:1005421111554

By:

Shoji, Y.;
Takahashi, T.;
Sawaishi, Y.;
Ishida, A.;
Matsumori, M.;
Shoji, Ya.;
Enoki, M.;
Watanabe, H.;
Takada, G.

Publication type:

Article