scholarly journals B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

2013 ◽  
Vol 163 (3) ◽  
pp. 847-854.e1 ◽  
Author(s):  
Melissa E. Elder ◽  
Sushrusha Nayak ◽  
Shelley W. Collins ◽  
Lee Ann Lawson ◽  
Jeffry S. Kelley ◽  
...  
Keyword(s):  
Immune Response ◽  
Enzyme Replacement Therapy ◽  
B Cell ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Cell Depletion ◽  
B Cell Depletion ◽  
Enzyme Replacement ◽  
Alpha Glucosidase

scholarly journals Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

2017 ◽  
Vol 10 (3) ◽  
pp. 150-151 ◽  
Author(s):  
Kazibe Koyuncu ◽  
Batuhan Turgay ◽  
Rusen Aytac ◽  
Feride Soylemez
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Autosomal Recessive Disorder ◽  
Enzyme Replacement ◽  
Disease Case ◽  
Alpha Glucosidase ◽  
Gaa Gene

Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease. The worldwide incidence of both forms of the disease is commonly reported to be 1 in 40,000. Adult patients are affected by limb-girdle muscular weakness and respiratory insufficiency. Enzyme replacement therapy with alglucosidase-alpha is available since 2006. There is little knowledge about pregnant woman with Pompe disease. These women should be considered as high-risk pregnant women. Here, we aim to present Cesarean delivery and postpartum management of a case with an interrupted enzyme replacement therapy during pregnancy.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement
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