Results 21 to 30 of about 8,917 (217)

From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy

Pediatria Polska, 2021
The paper presents the case of a 12-year-old boy hospitalised due to persistent hypertransaminasemia of unknown origin, in whom rare metabolic disease – Pompe disease, was finally diagnosed.
Ewa Grzywna, Jarosław Kwiecień
doaj   +1 more source

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Orphanet Journal of Rare Diseases, 2012
Background Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile
Weinreich Stephanie, Rigter Tessel, van El Carla, Dondorp Wybo, Kostense Pieter, van der Ploeg Ans T, Reuser Arnold JJ, Cornel Martina, Hagemans Marloes   +8 more
doaj   +1 more source

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

Molecular Therapy: Methods & Clinical Development, 2015
Pompe disease is an autosomal recessive inherited metabolic disease caused by deficiency of acid α-glucosidase (GAA). Glycogen accumulation is seen in the affected organ such as skeletal muscle, heart, and liver.
Yohei Sato, Hiroshi Kobayashi, Takashi Higuchi, Yohta Shimada, Takumi Era, Shigemi Kimura, Yoshikatsu Eto, Hiroyuki Ida, Toya Ohashi   +8 more
doaj   +1 more source

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Communications Biology, 2021
Wang et al. describe the development of a 3D in vitro model of human skeletal muscle that recapitulates the pathophysiology of Pompe disease. They further define a Pompe disease-specific transcriptional signature, confirm its presence in the Pompe ...
Jason Wang, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, Nenad Bursac   +9 more
doaj   +1 more source

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

International Journal of Neonatal Screening, 2020
Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted.
Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu   +4 more
doaj   +1 more source

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Frontiers in Neurology, 2021
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder.
Farzad Fatehi, Mahmoud Reza Ashrafi, Marzieh Babaee, Behnaz Ansari, Mehran Beiraghi Toosi, Reza Boostani, Peyman Eshraghi, Atefeh Fakharian, Zahra Hadipour, Bahram Haghi Ashtiani, Hossein Moravej, Yalda Nilipour, Payam Sarraf, Keyhan Sayadpour Zanjani, Shahriar Nafissi   +14 more
doaj   +1 more source

Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II

Scientific Reports, 2022
Electrical impedance methods, including electrical impedance myography, are increasingly being used as biomarkers of muscle health since they measure passive electrical properties of muscle that alter in disease.
Janice A. Nagy, Carson Semple, Daniela Riveros, Benjamin Sanchez, Seward B. Rutkove   +4 more
doaj   +1 more source

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model

Cells, 2023
Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent ...
Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel, Matthias Vorgerd   +8 more
doaj   +1 more source

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation

International Journal of Neonatal Screening, 2020
Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the ...
Kshea Hale, Yvonne Kellar-Guenther, Sarah McKasson, Sikha Singh, Jelili Ojodu   +4 more
doaj   +1 more source

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

International Journal of Neonatal Screening, 2018
Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in ...
Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien   +7 more
doaj   +1 more source