✦ LIBER ✦

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

✍ Scribed by F. Imtiaz; V. Worthington; M. Champion; C. Beesley; J. Charlwood; P. Clayton; G. Keir; N. Mian; B. Winchester

Book ID: 110228031
Publisher: Springer
Year: 2000
Tongue: English
Weight: 91 KB
Volume: 23
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005669900330

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A case of the carbohydrate-deficient gly

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

✍ J. Charlwood; P. Clayton; A. Johnson; G. Keir; N. Mian; B. Winchester 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 62 KB

Absence of homozygosity for predominant

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

✍ Kjaergaard, Susanne; Skovby, Flemming; Schwartz, Marianne 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 287 KB

Lysosomal enzyme activities in serum and

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

✍ R. Barone; H. Carchon; E. Jansen; L. Pavone; A. Fiumara; N.U. Bosshard; R. Gitze 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 104 KB

Capillary electrophoresis-based separati

Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome

✍ Robert P. Oda; Rajani Prasad; Robert L. Stout; David Coffin; Wendy P. Patton; Da 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 821 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

Carbohydrate-deficient glycoprotein synd

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

✍ Kjaergaard, Susanne; Skovby, Flemming; Schwartz, Marianne 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 211 KB