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.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 715, doi. 10.1023/B:BOLI.0000005661.67240.19
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Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 659, doi. 10.1023/B:BOLI.0000005659.52200.c1
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- Article
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 699, doi. 10.1023/B:BOLI.0000005660.88944.2f
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- Article
Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 617, doi. 10.1023/B:BOLI.0000005658.14563.77
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- Article
Phenylalanine can be detected in brain tissue of healthy subjects by <sup>1</sup>H magnetic resonance spectroscopy.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 683, doi. 10.1023/B:BOLI.0000005648.75276.71
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- Article
Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 720, doi. 10.1023/B:BOLI.0000005647.71704.25
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- Article
Case Report: Rhabdomyolysis in Glutaric Aciduria Type I.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 711, doi. 10.1023/B:BOLI.0000005635.89043.8a
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- Article
Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1α subunit.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 671, doi. 10.1023/B:BOLI.0000005628.16515.01
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A neurological symptom survey of patients with type I Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 641, doi. 10.1023/B:BOLI.0000005623.60471.51
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- Article
Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 693, doi. 10.1023/B:BOLI.0000005622.89660.59
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- Article
A model of neuronopathic Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 629, doi. 10.1023/B:BOLI.0000005619.14180.5c
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- Article
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 675, doi. 10.1023/B:BOLI.0000005618.76542.ed
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Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 647, doi. 10.1023/B:BOLI.0000005605.57420.b4
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- Article
Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 713, doi. 10.1023/B:BOLI.0000005604.90621.e2
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- Article
Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 705, doi. 10.1023/B:BOLI.0000005603.04633.21
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- Article