Results 71 to 80 of about 6,173 (169)

Anaesthetic Management of Two Patients with Pompe Disease for Caesarean Section

Case Reports in Anesthesiology, 2014
The introduction of enzyme replacement therapy and the resultant stabilisation or improvement in mobility and respiratory muscle function afforded to patients with late-onset Pompe may lead to an increased number of Pompe patients prepared to accept the ...
I. J. J. Dons-Sinke, M. Dirckx, G. P. Scoones   +2 more
doaj   +1 more source

Pompe Disease [PDF]

Neurologic Clinics, 2014
Majed Dasouki, Omar Jawdat, Osama Almadhoun, Mamatha Pasnoor, April L. McVey, Ahmad Abuzinadah, Laura Herbelin, Richard J. Barohn, Mazen M. Dimachkie   +8 more
openaire   +1 more source

Pompe Disease, a Storage Cardiomyopathy

Cardiogenetics, 2017
Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to
openaire   +3 more sources

Pompe Disease [PDF]

Neurologie pro praxi, 2018
Alexander Peter Murphy, Volker Straub
  +4 more sources

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

BMC Pediatrics
Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues.
Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh   +3 more
doaj   +1 more source

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

Orphanet Journal of Rare Diseases
Background Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region.
Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser   +6 more
doaj   +1 more source

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

Frontiers in Immunology
IntroductionPompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD).
Hui-An Chen, Hui-An Chen, Hui-An Chen, Rai-Hseng Hsu, Rai-Hseng Hsu, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Ni-Chung Lee, Ni-Chung Lee, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien, Yin-Hsiu Chien, Yin-Hsiu Chien   +18 more
doaj   +1 more source

Headache: A Presentation of Pompe Disease; A Case Report

Caspian Journal of Neurological Sciences, 2017
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab, Reza Boostani, Ali Ghabeli-Juibary, Sara Mali   +3 more
doaj  

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database

Orphanet Journal of Rare Diseases
Background Pompe disease is a rare, severe genetic multisystem disorder. It was one of the first genetic muscle diseases to benefit from an innovative therapy—enzyme replacement therapy (ERT)—more than 15 years ago. Despite this progress, data on patient
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski, Pascal Laforêt, Pompe Study Group   +6 more
doaj   +1 more source

When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. [PDF]

Med J Aust
Madigan S, England G, Rankin W.
europepmc   +1 more source