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

By Baehner F.,Kampmann C.,Whybra C.,Miebach E.,Wiethoff C. M.,Beck M.,Beck M. in (2003)

Springer Publishing Company

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A model of neuronopathic Gaucher disease

By Campbell P. E.,Campbell P. E.,Campbell P. E.,Harris C. M.,Harris C. M.,Sirimanna T.,Vellodi A. in (2003)

Springer Publishing Company

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A neurological symptom survey of patients with type I Gaucher disease

By Pastores G. M.,Pastores G. M.,Barnett N. L.,Bathan P.,Kolodny E. H. in (2003)

Springer Publishing Company

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

By Niers L.,Heuvel L. van den,Trijbels F.,Sengers R.,Smeitink J.,Smeitink J. in (2003)

Springer Publishing Company

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

By Gargus J. J.,Gargus J. J.,Gargus J. J.,Boyle K.,Bocian M.,Roe D. S.,Vianey-Saban C.,Roe C. R. in (2003)

Springer Publishing Company

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

By Wu Yong-Ge,Chen Wen-Yang,Zhang Zi-Wei,Yang Gui-Zheng,Li Wei,Duggleby Ronald G.,Duggleby Ronald G. in (2003)

Springer Publishing Company

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

By Bembi B.,Bembi B.,Ciana G.,Martini C.,Benettoni A.,Gombacci A.,Deganuto M.,Pittis M. G. in (2003)

Springer Publishing Company

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Phenylalanine can be detected in brain tissue of healthy subjects by ¹H magnetic resonance spectroscopy

By Pietz J.,Pietz J.,Lutz T.,Zwygart K.,Hoffmann G. F.,Ebinger F.,Boesch C.,Kreis R. in (2003)

Springer Publishing Company

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

By László Á.,Schuler É. Á.,Sallay É.,Endreffy E.,Somogyi Cs.,Várkonyi Á.,Havass Z.,Jansen K. P.,Wolf B.,Wolf B. in (2003)

Springer Publishing Company

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

By Karas N.,Gobec L.,Pfeifer V.,Mlinar B.,Battelino T.,Lukac-Bajalo J.,Lukac-Bajalo J. in (2003)

Springer Publishing Company

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