✦ LIBER ✦

Imbalanced substrate specificity of mutant β-galactosidase in patients with Morquio B disease

✍ Scribed by Toshika Okumiya; Hitoshi Sakuraba; Ryoichi Kase; Tetsuro Sugiura

Book ID: 117735459
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 198 KB
Volume: 78
Category: Article
ISSN: 1096-7192
DOI: 10.1016/s1096-7192(02)00199-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Beta-galactosidase deficiencies and nove

Beta-galactosidase deficiencies and novelGLB1mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

✍ Hong-Lin Lei, Jun Ye, Wen-Juan Qiu, Hui-Wen Zhang, Lian-Shu Han, Yu Wang, Xue-Fa 📂 Article 📅 2012 🏛 SP Children’s Hospital, Zhejiang University School 🌐 English ⚖ 308 KB

Mutation analyses in 17 patients with de

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

✍ Eduard Paschke; Ivica Milos; Heidemarie Kreimer-Erlacher; Gerald Hoefler; Michae 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 130 KB

The excretion of N-acetyl-β-glucosaminid

The excretion of N-acetyl-β-glucosaminidase and β-galactosidase by patients with renal disease

✍ N. Dance; R.G. Price; W.R. Cattell; J. Lansdell; B. Richards 📂 Article 📅 1970 🏛 Elsevier Science 🌐 English ⚖ 569 KB

Impaired Elastic-Fiber Assembly by Fibro

Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase

✍ Aleksander Hinek; Sunqu Zhang; Adam C. Smith; John W. Callahan 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 853 KB

In vitro restoration of deficient β-gala

In vitro restoration of deficient β-galactosidase activity in liver of patients with Hurler and Hunter disease

✍ KINT, J. A. 📂 Article 📅 1974 🏛 Nature Publishing Group 🌐 English ⚖ 220 KB

Novel β-galactosidase gene mutation p.W2

Novel β-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

✍ Zoran S. Gucev; Velibor Tasic; Aleksandra Jancevska; Georgi Zafirovski; Ivo Krem 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB