Results 31 to 40 of about 8,917 (217)

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

Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Journal of Pediatrics: Clinical Practice
Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and ...
Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD   +6 more
doaj   +1 more source

Infantile Pompe disease: Clinical picture, diagnosis, and treatment

Нервно-мышечные болезни, 2015
Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy.
N. P. Kotlukova, S. V. Mikhailova, T. M. Bukina, E. Yu. Zakharova   +3 more
doaj   +1 more source

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease

MDM Policy & Practice, 2018
Background: Newborn screening is a public health program to identify conditions associated with significant morbidity or mortality that benefit from early intervention.
Lisa A. Prosser, K. K. Lam, Scott D. Grosse, Mia Casale, Alex R. Kemper,   +5 more
doaj   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

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

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

EMBO Molecular Medicine, 2021
Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology.
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti   +18 more
doaj   +1 more source

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

International Journal of Neonatal Screening, 2020
Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage.
Raymond Y. Wang
doaj   +1 more source

Pompe disease gene therapy [PDF]

Human Molecular Genetics, 2011
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder ...
Barry J, Byrne, Darin J, Falk, Christina A, Pacak, Sushrusha, Nayak, Roland W, Herzog, Melissa E, Elder, Shelley W, Collins, Thomas J, Conlon, Nathalie, Clement, Brian D, Cleaver, Denise A, Cloutier, Stacy L, Porvasnik, Saleem, Islam, Mai K, Elmallah, Anatole, Martin, Barbara K, Smith, David D, Fuller, Lee Ann, Lawson, Cathryn S, Mah   +18 more
openaire   +3 more sources