Results 71 to 80 of about 4,879,561 (170)

EEG Biomarkers for Affective Disorders Diagnosis: An Evaluation and Validation Study

Human Brain Mapping, Volume 47, Issue 13, September 2026.
In this review, we introduce 25 EEG biomarkers for affective disorders diagnosis. We then validate their predictive ability across a public EEG dataset composed of healthy controls and subjects with different affective disorders, and provide a comprehensive analysis and discussion.
Sha Zhao, Yitian Liu, Jiquan Wang, Ruizhe Zhang, Yilin Wang, Haiteng Jiang, Shijian Li, Tao Li, Gang Pan   +8 more
wiley   +1 more source

Newborn Screening for Pompe Disease

, 2017
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing ...
C. Ronald Scott, Roberto Giugliani, null null, Olaf A. Bodamer   +3 more
core   +1 more source

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +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.
Dalen, B.M. (Bas) van, Nemes, A. (Attila), van Dalen, Bas, Vletter, W.B. (Wim), van Doorn, Pieter; id_orcid, Nemes, A (Attila), Soliman, O.I.I. (Osama Ibrahim Ibrahim), van der Ploeg, Ans, Vletter, Wim, van Doorn, Pieter, Doorn, P.A. (Pieter) van, Soliman, Osama, van Dalen, Bas; id_orcid, Cate, F.J. (Folkert) ten, Beek, N.A.M.E. (Nadine) van der, Geleijnse, M.L. (Marcel), Ploeg, A.T. (Ans) van der, ten Cate, Folkert, van der Beek, N.A.M.E., Geleijnse, Marcel   +19 more
core   +2 more sources

Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease

Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019
Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was
Anna Roszmann, Mikołaj Hamerski, Marcelina Skrzypek-Czerko   +2 more
doaj   +1 more source

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N‐glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic ...
Antje Banning, Lidia Reznikova, Adla Murad, Ritva Tikkanen   +3 more
wiley   +1 more source

Pompe disease gene therapy

, 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.
Elder, Melissa E, Byrne, Barry j, Islam, Saleem, Conlon, Thomas J, Clement, Nathalie, Falk, Darin J, Nayak, Sushrusha, Pacak, Christina A, Herzog, Roland W, Collins, Shelley W   +9 more
core   +2 more sources

Skeletal muscle metabolism during prolonged exercise in Pompe disease

Endocrine Connections, 2017
Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing   +8 more
doaj   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Elena Braha, Alina-Costina Luca
core   +2 more sources