Results 11 to 20 of about 8,917 (217)

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis. [PDF]

JIMD Rep
ABSTRACT The objective of this study is to evaluate whether early enzyme replacement therapy (ERT) initiation is associated with a lower incidence of echocardiogram abnormalities and cardiac conduction abnormalities compared to later ERT initiation.
Cohen JL, Beaman MM, Rodriguez-Rassi E, Stafford VG, Smith PB, Landstrom AP, Kishnani PS.   +6 more
europepmc   +2 more sources

Late-onset Pompe disease - literature review and summary of current knowledge

Quality in Sport, 2023
Introduction: Pompe disease is a glycogen storage disorder caused by the deficient activity of the lysosomal enzyme acid α-glucosidase (GAA). Mutations in the GAA gene lead to the accumulation of glycogen in different organs.
Karolina Jaskuła, Konrad Merkisz, Sylwia Nemeczek, Klaudia Walczak, Jakub Grzybowski, Agnieszka Marciniak, Władysław Orłowski, Natalia Grzywna, Patrycja Walczak, Weronika Salasa   +9 more
doaj   +1 more source

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

Frontiers in Neurology, 2023
ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the ...
Simon Lin, Simon Lin, Jama Nateqi, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Florian B. Lagler, Elmar Aigner, Elmar Aigner, Alistair G. Martin   +12 more
doaj   +1 more source

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease. [PDF]

PLoS ONE, 2013
OBJECTIVE: Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known.
Yin-Hsiu Chien, Der-Sheng Han, Wuh-Liang Hwu, Beth L Thurberg, Wei-Shiung Yang   +4 more
doaj   +1 more source

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Нервно-мышечные болезни, 2020
Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life.
S. S. Nikitin
doaj   +1 more source

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

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

Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. [PDF]

Int J Neonatal Screen
Cheah FC, Syed Omar SA, Lee J, Ang ZJ, Gopal AR, Wan Md Zin WN, Ng BK, Chiang SC, Chien YH.   +8 more
europepmc   +3 more sources

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

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