Results 91 to 100 of about 8,804 (200)

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

Journal of Pediatric Rehabilitation Medicine, 2014
PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe ...
Harrison N. Jones, Kelly D. Crisp, Tronda Moss, Katherine Strollo, Randy Robey, Jeffrey Sank, Michelle Canfield, Laura E. Case, Leslie Mahler, Richard M. Kravitz, Priya S. Kishnani   +10 more
doaj   +1 more source

Efficacy of Quantitative Muscle Ultrasound Using Texture-Feature Parametric Imaging in Detecting Pompe Disease in Children

Entropy, 2019
Pompe disease is a hereditary neuromuscular disorder attributed to acid α-glucosidase deficiency, and accurately identifying this disease is essential. Our aim was to discriminate normal muscles from neuropathic muscles in children affected by Pompe
Hong-Jen Chiou, Chih-Kuang Yeh, Hsuen-En Hwang, Yin-Yin Liao   +3 more
doaj   +1 more source

Nutrition and exercise in Pompe disease

Annals of Translational Medicine, 2019
The current standard of care for Pompe disease (PD) is the administration of enzyme replacement therapy (ERT). Exercise and nutrition are often considered as complementary strategies rather than "treatments" per se. Nutritional assessment is important in patients with locomotor disability because the relative hypodynamia limits energy expenditure and ...
Mark A, Tarnopolsky, Mats I, Nilsson
openaire   +2 more sources

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +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

Diagnosis and management of Pompe disease

South African Medical Journal, 2014
Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen.
Bhengu, L, Davidson, A, du Toit, P, Els, C, Gerntholtz, T, Govendrageloo, K, Henderson, B, Mubaiwa, L, Varughese, S   +8 more
openaire   +5 more sources

Pompe Disease [PDF]

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

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

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