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Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

✍ Scribed by M. Fotoulaki; E. H. Schuchman; C. M. Simonaro; P. Augoustides-Savvopoulou; H. Michelakakis; P. Panagopoulou; G. Varlamis; S. Nousia-Arvanitakis


Publisher
Springer
Year
2007
Tongue
English
Weight
138 KB
Volume
30
Category
Article
ISSN
0141-8955

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Acid sphingomyelinase: Identification of
✍ M.G. Pittis; V. Ricci; V. I. Guerci; C. Marçais; G. Ciana; A. Dardis; F. Gerin; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 1 views

Niemann Pick disease (NPD) is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. In the present work we studied 18 patients with NPD type B, including five individuals who presented an intermediate phen