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

2009 ◽  
Vol 40 (1) ◽  
pp. 143-148 ◽  
Author(s):  
Mari P. Korpela ◽  
Anders Paetau ◽  
Mervi I. Löfberg ◽  
Marjut H. Timonen ◽  
Antti E. Lamminen ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Disease Patient ◽  
Enzyme Replacement ◽  
Gaa Gene

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

2011 ◽  
Vol 33 (6) ◽  
pp. S37
Author(s):  
Paula Garcia ◽  
Rui Castelo ◽  
Mafalda Barbosa ◽  
Henriqueta Araujo ◽  
Vera Ribeiro ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscular Strength ◽  
Late Onset ◽  
Enzyme Replacement ◽  
And Function

36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry

2018 ◽  
Vol 265 (12) ◽  
pp. 2783-2788 ◽  
Author(s):  
Olivier Scheidegger ◽  
Daniela Leupold ◽  
Rafael Sauter ◽  
Oliver Findling ◽  
Kai Michael Rösler ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement

Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up

2014 ◽  
Vol 36 (4) ◽  
pp. 599-605 ◽  
Author(s):  
Jin-Sung Park ◽  
Hye-Gyung Kim ◽  
Jin-Hong Shin ◽  
Young-Chul Choi ◽  
Dae-Seong Kim
Keyword(s):  
Pilot Study ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Open Pilot

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.

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