Results 81 to 90 of about 8,917 (217)

Image_1_Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function.PDF

, 2021
Meng-Chen Liu (1363788), Ming-Tse Wang (11662126), Philip Kuo-Ting Chen (11829341), Dau-Ming Niu (3522470), Yu-Hsuan Fan Chiang (11829344), Ming-Hui Hsieh (11829347), Hsiao-Chien Tsai (688931)   +6 more
openalex   +2 more sources

PCR67 Association of Walking Distance with Quality of Life and Other Patient-Reported Outcomes in Pompe Disease [PDF]

, 2022
Syed Raza, Ian Keyzor, Simon Shohet, Aastha Chandak, A Cheng, N Hummel   +5 more
openalex   +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

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

, 2023
Katherine H. Kim, Ankit K. Desai, Erika Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton   +5 more
openalex   +1 more source

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

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

The First Year Experience of Newborn Screening for Pompe Disease in California [PDF]

, 2020
Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney   +6 more
openalex   +1 more source

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

, 2020
Yin‐Hsiu Chien, Wen-Hui Tsai, Chaw‐Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu‐Jen Tsai, Siew-Lee Wong, Ni‐Chung Lee, Wuh‐Liang Hwu   +8 more
openalex   +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