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