✦ LIBER ✦

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C

✍ Scribed by Markus Ries; Ellen Schaefer; Till Lührs; Latha Mani; Jana Kuhn; Marie T. Vanier; Frank Krummenauer; Andreas Gal; Michael Beck; Eugen Mengel

Publisher: Springer
Year: 2006
Tongue: English
Weight: 267 KB
Volume: 29
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-006-0363-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Treatment of Niemann–Pick disease type C

Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1

✍ Y.-H. Chien; N.-C. Lee; L.-K. Tsai; A.-C. Huang; S.-F. Peng; S.-J. Chen; W.-L. H 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 131 KB

The videofluoroscopic swallowing study s

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat

✍ Simona Fecarotta; Michele Amitrano; Alfonso Romano; Roberto Della Casa; Diana Br 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB 👁 1 views

Identification of three novel mutations

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

✍ Hiroyuki Ida; Owen M. Rennert; Kihei Maekawa; Yoshikatsu Eto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 2 views

Identification of a missense mutation (S

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease

✍ Tsutomu Takahashi; Robert J. Desnick; Goro Takada; Edward H. Schuchman 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

Evidence for both endogenous and exogeno

Evidence for both endogenous and exogenous sources of the sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A and B

✍ T. Levade; R. Salvayre; A. Maret; L. Douste-Blazy 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 620 KB

Clinical and laboratory findings in four

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

✍ A. McConkie-Rosell; C. Wilson; D. A. Piccoli; J. Boyle; T. De Clue; P. Kishnani; 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 662 KB