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Abstracts - SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005

By in (2005)

Springer Publishing Company

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Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice

By Butler A.,Henderson S.,Gordon R.,Dagan A.,Gatt S.,Schuchman E. in (2005)

Springer Publishing Company

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Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease

By Brinkman J.,Wijburg F.,Hollak C.,Groener J.,Verhoek M.,Scheij S.,Aten J.,Boot R.,Aerts J. in (2005)

Springer Publishing Company

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Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide

By Whitfield P.,Calvin J.,Hogg S.,O’Driscoll E.,Halsall D.,Burling K.,Maguire G.,Wright N.,Cox T.,Meikle P.,Deegan P. in (2005)

Springer Publishing Company

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Erratum

By in (2005)

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

By Mills K.,Morris P.,Lee P.,Vellodi A.,Waldek S.,Young E.,Winchester B. in (2005)

Springer Publishing Company

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Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency

By Iida M.,Yasuhara T.,Mochizuki H.,Takakura H.,Yanagisawa T.,Kubo H. in (2005)

Springer Publishing Company

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Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum

By Latini A.,Scussiato K.,Leipnitz G.,Dutra-Filho C.,Wajner M. in (2005)

Springer Publishing Company

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Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome

By Rossi M.,Federico G.,Corso G.,Parenti G.,Battagliese A.,Frascogna A.,Casa R.,Russo A.,Strisciuglio P.,Saggese G.,Andria G. in (2005)

Springer Publishing Company

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Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

By Hargreaves I.,Sheena Y.,Land J.,Heales S. in (2005)

Springer Publishing Company

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