Results 11 to 20 of about 5,969 (170)

Lessons Learned from Pompe Disease Newborn Screening and Follow-up

International Journal of Neonatal Screening, 2020
In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services.
Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen, Jami L. Kiesling   +4 more
doaj   +1 more source

Pompe disease

East European Journal of Neurology, 2017
. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues ...
N. Svystun, О. Yelizarova, N. Svyrydova
openaire   +3 more sources

Hypothyroidism in late-onset Pompe disease

Molecular Genetics and Metabolism Reports, 2016
Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms ...
Joseph Schneider, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, Jeanine Jarnes Utz   +4 more
doaj   +1 more source

ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE

Педиатрическая фармакология, 2014
Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation.
E. N. Basargina, E. N. Arkhipova, V. S. Ermolenko   +2 more
doaj   +1 more source

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

Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells

Cells, 2020
Pompe disease is a lysosomal storage disorder caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene. Acid alpha-glucosidase deficiency leads to abnormal glycogen accumulation in patient cells.
Yu-Shan Cheng, Shu Yang, Junjie Hong, Rong Li, Jeanette Beers, Jizhong Zou, Wenwei Huang, Wei Zheng   +7 more
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

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

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

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