✦ LIBER ✦

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

✍ Scribed by Donna L. Bernstein; Martin G. Bialer; Lakshmi Mehta; Robert J. Desnick

Book ID: 116989023
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 161 KB
Volume: 101
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2010.06.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pompe disease: Dramatic improvement in g

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

✍ Donna L. Bernstein; Martin G. Bialer; Lakshmi Mehta; Robert J. Desnick 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 161 KB

Enzyme replacement therapy in late-onset

Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

✍ Léon P. F. Winkel; Johanna M. P. Van den Hout; Joep H. J. Kamphoven; Janus A. M. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 2 views

Muscular Strength and Function in Late-O

Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy

✍ Paula Garcia; Rui Castelo; Mafalda Barbosa; Henriqueta Araujo; Vera Ribeiro; Fát 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 70 KB

Close monitoring of initial enzyme repla

Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

✍ Keiko Ishigaki; Terumi Murakami; Toshio Nakanishi; Eri Oda; Takatoshi Sato; Maki 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 352 KB

P3.53 Quantitative muscle MRI findings i

P3.53 Quantitative muscle MRI findings in three patients with adult-onset Pompe disease after a 24-month enzyme replacement therapy

✍ E. Salort-Campana; Y. Le Fur; S. Attarian; J.P. Mattéi; P.J. Cozzone; J. Pouget; 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 48 KB

A novel mutation of the GAA gene in a Fi

A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy

✍ Mari P. Korpela; Anders Paetau; Mervi I. Löfberg; Marjut H. Timonen; Antti E. La 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late‐onset form of Pompe disease. Molecular genetic analys