Results 31 to 40 of about 22,388 (216)

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

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

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

Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study [PDF]

, 2013
Background: Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data
D'Agostino, R.B. (Ralph), Doorn, P.A. (Pieter) van, Güngör, D. (Deniz), Hagemans, M.L.C. (Marloes), Kruijshaar, M.E. (Michelle), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), Reuser, A.J.J. (Arnold)   +7 more
core   +1 more source

Cardiac involvement in adults with Pompe disease [PDF]

, 2008
Background. Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid α- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure.
Beek, N.A.M.E. (Nadine) van der, Cate, F.J. (Folkert) ten, Dalen, B.M. (Bas) van, Doorn, P.A. (Pieter) van, Geleijnse, M.L. (Marcel), Nemes, A. (Attila), Ploeg, A.T. (Ans) van der, Soliman, O.I.I. (Osama Ibrahim Ibrahim), Vletter, W.B. (Wim)   +8 more
core   +2 more sources

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +1 more source

Newborn Screening for Pompe Disease [PDF]

International Journal of Neonatal Screening, 2020
Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity.
Takaaki Sawada, Jun Kido, Kimitoshi Nakamura   +2 more
openaire   +3 more sources

Infantile Pompe disease with intrauterine onset: a case report and literature review

Italian Journal of Pediatrics, 2022
Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions.
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang   +5 more
doaj   +1 more source

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database

Molecular Genetics and Metabolism Reports, 2021
Background: The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database.
Kyung Sun Park
doaj   +1 more source

Analysis of ischaemic crisis using the informational causal entropy-complexity plane [PDF]

, 2018
In the present work, an ischaemic process, mainly focused on the reperfusion stage, is studied using the informational causal entropy-complexity plane.
Francisco O. Redelico, Francisco Traversaro, Leandro J. Cymberknop, Miura M., Osvaldo A. Rosso, Rashed E., Ricardo L. Armentano, Rosso O. A., Walter Legnani   +8 more
core   +1 more source