✦ LIBER ✦

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI

✍ Scribed by Ângela John; Simone Fagondes; Ida Schwartz; Ana Cecília Azevedo; Patrícia Barrios; Paulo Dalcin; Sérgio Menna-Barreto; Roberto Giugliani

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 109 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33902

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation (Q239R) identified in a

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

✍ Jer-Yuarn Wu; Chi-Fan Yang; Cheng-Chun Lee; Jan-Gowth Chang; Fuu-Jen Tsai 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 1 views

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Blink reflex excitability is abnormal in

Blink reflex excitability is abnormal in patients with periodic leg movements in sleep

✍ Dr. Regula S. Briellmann; Kai M. Rösler; Christian W. Hess 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 489 KB

## Abstract The excitability of the late component of the blink reflex was measured in 19 patients with periodic leg movements in sleep (PLMS) and in 18 control patients with other sleep complaints. PLMS patients were not different from controls regarding age, body mass index, and apneas and hypopn

Two New Nonsense mutations (Q80X; Q389X)

Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)

✍ Romeo Carrozzo; Rossana Tonlorenzi; Fabio Corsolini; Rosanna Gatti 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB

More than 100 mutations of the HPRT gene have been described related to Lesch-Nyhan syndrome in complete lack of enzyme activity, or KelleySeegmiller syndrome in partial enzyme deficiency. We examined (modified according to genomic DNA from an 11-year-old boy, S.Z., with -1% HPRT activity, who had

Intrathecal enzyme replacement therapy i

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

✍ Maria-Veronica Munoz-Rojas; Taiane Vieira; Ronaldo Costa; Simone Fagondes; Angel 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

Mutations of the iduronate-2-sulfatase g

Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)

✍ Ewa Popowska; Michaela Rathmann; Anna Tylki-Szymanska; Susanna Bunge; Cordula St 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 478 KB

## Communicated by Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase

Transport, enzymatic activity, and stabi

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

✍ Nicole Muschol; Stephan Storch; Diana Ballhausen; Clare Beesley; Jan-Christoph W 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB

## Communicated by Elizabeth Neufeld Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excr