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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 2/2010

Ausgabe 2/2010

Inhaltsverzeichnis ( 10 Artikel )

01.04.2010 | Review | Ausgabe 2/2010

The biochemical basis of hereditary fructose intolerance

Nadia Bouteldja, David J. Timson

01.04.2010 | Original Article | Ausgabe 2/2010

Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites

Renaud Schoemans, Marie-Stéphane Aigrot, Chaohong Wu, Raphaël Marée, Pengyu Hong, Shibeshi Belachew, Claire Josse, Catherine Lubetzki, Vincent Bours

01.04.2010 | Original Article | Ausgabe 2/2010

Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease

Laura M. Mazer, Sarah H. L. Yi, Rani H. Singh

01.04.2010 | Original Article | Ausgabe 2/2010

Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?

John Widger, Jennifer O’Toole, Olivia Geoghegan, Micheal O’Keefe, Rosemarie Manning

01.04.2010 | Original Article | Ausgabe 2/2010 Open Access

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg

01.04.2010 | Original Article | Ausgabe 2/2010

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

Shunji Tomatsu, Adriana M. Montaño, Toshihiro Oguma, Vu Chi Dung, Hirotaka Oikawa, Talita Giacomet de Carvalho, María L. Gutiérrez, Seiji Yamaguchi, Yasuyuki Suzuki, Masaru Fukushi, Nobuo Sakura, Luis Barrera, Kazuhiro Kida, Mitsuru Kubota, Tadao Orii

01.04.2010 | Original Article | Ausgabe 2/2010

Efficacy of recombinant human α-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients

Anna Tylki-Szymanska, Jolanta Marucha, Agnieszka Jurecka, Malgorzata Syczewska, Barbara Czartoryska

01.04.2010 | Original Article | Ausgabe 2/2010

Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

Paola Di Natale, Carmela Di Domenico, Daniele Di Napoli

01.04.2010 | Original Article | Ausgabe 2/2010

The risk of Parkinson’s disease in type 1 Gaucher disease

Gilberto Bultron, Katherine Kacena, Daniel Pearson, Michael Boxer, Ruhua Yang, Swati Sathe, Gregory Pastores, Pramod K. Mistry

01.04.2010 | Letter to the Editor | Ausgabe 2/2010

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

Katrin Õunap, Kairit Joost, Triinu Temberg, Külliki Krabbi, Neeme Tõnisson

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