✦ LIBER ✦

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

✍ Scribed by R. Barone; H. Carchon; E. Jansen; L. Pavone; A. Fiumara; N.U. Bosshard; R. Gitzelmann; J. Jaeken

Book ID: 110223017
Publisher: Springer
Year: 1998
Tongue: English
Weight: 104 KB
Volume: 21
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005351927573

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

NormalN-oligosaccharyltransferase activi

NormalN-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

✍ R. Knauer; L. Lehle; F. Hanefeld; K. Figura 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 254 KB

Genotypes and phenotypes of patients in

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

✍ F. Imtiaz; V. Worthington; M. Champion; C. Beesley; J. Charlwood; P. Clayton; G. 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 91 KB

Magnetic resonance imaging and proton MR

Magnetic resonance imaging and proton MR spectroscopy of the brain in a patient with carbohydrate-deficient glycoprotein syndrome type I

✍ Mayumi Takeuchi; Masafumi Harada; Sonoka Hisaoka; Hiromu Nishitani; Kenji Mori; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 750 KB

## Abstract This is a report on a case of carbohydrate‐deficient glycoprotein syndrome (CDGS) with neurological deficits. Magnetic resonance (MR) images showed remarkable atrophy of the cerebellum and brainstem, and hypointensity was seen in the pallidum on diffusion‐weighted images (DWI), suggesti