Results 111 to 120 of about 22,388 (216)

Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is
Moein Mir, Kianmehr Rouhani, Kiana Rouhani, Mohammadjavad Hassani, Mohammadrafi Damirchi, Sajjad Yazdansetad, Mehrdad Aghaei   +6 more
doaj   +1 more source

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

JIMD Reports, 2019
Background Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown.
Florian B. Lagler, Angelika Moder, Marianne Rohrbach, Julia Hennermann, Eugen Mengel, Seyfullah Gökce, Thomas Hundsberger, Kai M. Rösler, Nesrin Karabul, Martina Huemer   +9 more
doaj   +1 more source

Juvenile Pompe Disease: Retrospective Clinical Study [PDF]

, 2013
ntrodução: A doença de Pompe ou glicogenose tipo II é uma doença autossómica recessiva por deficiência de maltase ácida. É uma entidade rara, com prevalência de 1/40.000 nas populações holandesa e afro-americana e 1/46000 na população australiana. Embora
Araújo, H., Diogo-Matos, L., Estevão, M., Garcia, P., Lacerda, L., Loureiro-Neves, F., Madeira, N., Rodrigues, F.   +7 more
core  

Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model

Annals of Medicine
Introduction Acid α-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to glucose. Deficiency of GAA causes Pompe disease (PD), also known as glycogen storage disease type II. The resulting glycogen accumulation causes a spectrum of disease
David Merberg, Rodney Moreland, Zhenqiang Su, Bin Li, Bob Crooker, Kathleen Palmieri, Simon W. Moore, Andrew Melber, Ruby Boyanapalli, Galen Carey, Mahindra Makhija   +10 more
doaj   +1 more source

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

Increased markers of cardiac vagal activity in leucine-rich repeat kinase 2-associated Parkinson's disease. [PDF]

, 2019
PurposeCardiac autonomic dysfunction manifests as reduced heart rate variability (HRV) in idiopathic Parkinson's disease (PD), but no significant reduction has been found in PD patients who carry the LRRK2 mutation.
Carricarte Naranjo, Claudia, Cornforth, David J, Estévez, Mario, Goldman, Samuel M, Jelinek, Herbert F, Lang, Anthony E, Machado, Andrés, Marras, Connie, Sanchez-Rodriguez, Lazaro, Schüle, Birgitt, Stein, Phyllis K, Visanji, Naomi P   +11 more
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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

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +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

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