Works matching IS 01418955 AND DT 2003 AND VI 26 AND IP 7

Results: 16

Instructions to Authors.

Published in:: Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 723, doi. 10.1023/B:BOLI.0000005662.26856.7b
Publication type:: Article

Short Report: Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 715, doi. 10.1023/B:BOLI.0000005661.67240.19

By:

Kimura, M.;
Fukui, T.;
Tagami, Y.;
Fujiwaki, T.;
Yokoyama, M.;
Ishioka, C.;
Kumasaka, K.;
Terada, N.;
Yamaguchi, S.

Publication type:

Article

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 699, doi. 10.1023/B:BOLI.0000005660.88944.2f

By:

Karas, N.;
Gobec, L.;
Pfeifer, V.;
Mlinar, B.;
Battelino, T.;
Lukac-Bajalo, J.

Publication type:

Article

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 659, doi. 10.1023/B:BOLI.0000005659.52200.c1

By:

Gargus, J.;
Boyle, K.;
Bocian, M.;
Roe, D.;
Vianey-Saban, C.;
Roe, C.

Publication type:

Article

Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 617, doi. 10.1023/B:BOLI.0000005658.14563.77

By:

Baehner, F.;
Kampmann, C.;
Whybra, C.;
Miebach, E.;
Wiethoff, C.;
Beck, M.

Publication type:

Article

Phenylalanine can be detected in brain tissue of healthy subjects by <sup>1</sup>H magnetic resonance spectroscopy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 683, doi. 10.1023/B:BOLI.0000005648.75276.71

By:

Pietz, J.;
Lutz, T.;
Zwygart, K.;
Hoffmann, G.;
Ebinger, F.;
Boesch, C.;
Kreis, R.

Publication type:

Article

Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 720, doi. 10.1023/B:BOLI.0000005647.71704.25

By:

Morava, E.;
Hol, F.;
Janssen, A.;
Smeitink, J.

Publication type:

Article

Case Report: Rhabdomyolysis in Glutaric Aciduria Type I.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 711, doi. 10.1023/B:BOLI.0000005635.89043.8a

By:

Chow, S.;
Rohan, C.;
Morris, A.

Publication type:

Article

Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1α subunit.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 671, doi. 10.1023/B:BOLI.0000005628.16515.01

By:

Wu, Yong-Ge;
Chen, Wen-Yang;
Zhang, Zi-Wei;
Yang, Gui-Zheng;
Li, Wei;
Duggleby, Ronald

Publication type:

Article

A neurological symptom survey of patients with type I Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 641, doi. 10.1023/B:BOLI.0000005623.60471.51

By:

Pastores, G.;
Barnett, N.;
Bathan, P.;
Kolodny, E.

Publication type:

Article

Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 693, doi. 10.1023/B:BOLI.0000005622.89660.59

By:

László, Á.;
Schuler, É.;
Sallay, É.;
Endreffy, E.;
Somogyi, Cs.;
Várkonyi, Á.;
Havass, Z.;
Jansen, K.;
Wolf, B.

Publication type:

Article

A model of neuronopathic Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 629, doi. 10.1023/B:BOLI.0000005619.14180.5c

By:

Campbell, P.;
Harris, C.;
Sirimanna, T.;
Vellodi, A.

Publication type:

Article

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 675, doi. 10.1023/B:BOLI.0000005618.76542.ed

By:

Bembi, B.;
Ciana, G.;
Martini, C.;
Benettoni, A.;
Gombacci, A.;
Deganuto, M.;
Pittis, M.

Publication type:

Article

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 647, doi. 10.1023/B:BOLI.0000005605.57420.b4

By:

Niers, L.;
Heuvel, L.;
Trijbels, F.;
Sengers, R.;
Smeitink, J.

Publication type:

Article

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 713, doi. 10.1023/B:BOLI.0000005604.90621.e2

By:

Mühlhausen, C.;
Christensen, E.;
Schwartz, M.;
Muschol, N.;
Ullrich, K.;
Lukacs, Z.

Publication type:

Article

Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 705, doi. 10.1023/B:BOLI.0000005603.04633.21

By:

Law, L.;
Tang, N.;
Hui, J.;
Lam, C.;
Fok, T.

Publication type:

Article