Results 31 to 40 of about 6,173 (169)

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

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

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

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

Adult Form of Pompe Disease

Advances in Respiratory Medicine, 2008
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased.
Ziółkowska-Graca, Bożena, Kania, Aleksander, Zwolińska, Grażyna, Niżankowska-Mogilnicka, Ewa   +3 more
openaire   +3 more sources

Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease

Stem Cell Research, 2022
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs ...
Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou   +5 more
doaj   +1 more source

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Orphanet Journal of Rare Diseases, 2021
Background In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm ...
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn   +11 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Autophagy and Lysosomes in Pompe Disease [PDF]

Autophagy, 2006
In Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, intralysosomal glycogen accumulates in multiple tissues, with skeletal and cardiac muscle most severely affected.(1) Complete enzyme deficiency results in rapidly progressive infantile cardiomyopathy and skeletal muscle myopathy that is fatal within the first two years of life ...
Tokiko, Fukuda, Ashley, Roberts, Meghan, Ahearn, Kristien, Zaal, Evelyn, Ralston, Paul H, Plotz, Nina, Raben   +6 more
openaire   +2 more sources

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease

Molecular Genetics and Metabolism Reports, 2014
Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity.
C. Papadopoulos, G.K. Papadimas, H. Michelakakis, E. Kararizou, P. Manta   +4 more
doaj   +1 more source