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Journal of Inherited Metabolic Disease
Metadata
Title
Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations
Authors
B. Klarner
H. H. Klünemann
R. Lürding
C. Aslanidis
R. Rupprecht
Publication date
01-02-2007
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 1/2007
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-006-0417-6

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Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III

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A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom

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Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment

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