𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The clinical spectrum of fetal Niemann–Pick type C

✍ Scribed by Ronen Spiegel; Annick Raas-Rothschild; Orit Reish; Miriam Regev; Vardiella Meiner; Ruth Bargal; Vivi Sury; Karen Meir; Michel Nadjari; Gratiana Hermann; Theodor C. Iancu; Stavit A. Shalev; Marsha Zeigler

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
83 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cholesterol reutilization during myelina
Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice
✍ Jeffry F. Goodrum; Peter G. Pentchev 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB

Niemann-Pick C (NPC) disease is an autosomal recessive lipidosis characterized by lysosomal accumulations of unesterified cholesterol. Cultured NPC cells exhibit a defect in the intracellular trafficking of LDL-derived cholesterol that leads to lysosomal accumulations of unesterified cholesterol. We

The clinical spectrum of type IV collage
The clinical spectrum of type IV collagen mutations
✍ Henny H. Lemmink; Cornelis H. Schröder; Leo A. H. Monnens; Huber J. M. Smeets 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 292 KB 👁 1 views

Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than 160 different mutations have yet b

The mutational spectrum of brachydactyly
The mutational spectrum of brachydactyly type C
✍ Everman, David B. ;Bartels, Cynthia F. ;Yang, Yue ;Yanamandra, Niranjan ;Goodman 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 1 views