Results 81 to 90 of about 4,879,561 (170)
Precocious puberty in patients with Pompe disease
, 2023 [[abstract]]Introduction: The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy.
Tsai, MJM;Chen, MH;Chien, YH;Tung, YC
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Pediatric Pulmonology, Volume 61, Issue 8, August 2026.ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next‐generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis.
Tilbe Hakçıl Öz +4 more
wiley +1 more source
Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)
Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani +12 more
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Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
, 2014 Background: Pompe disease is caused by a deficiency in acid alpha-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms.
胡務亮 ;李妮鍾 ;簡穎秀 ;蔣書娟 ;徐儷文 +1 more
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Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. [PDF]
, 2014 Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in late-onset Pompe disease is moderately effective. Little is known about the clinical course after treatment termination and the resumption of ERT. In Switzerland, rhGAA
Hundsberger, Thomas +2 more
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Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1469-1479, July 2026.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Late-onset Pompe disease associated with polyneuropathy.
, 2019 Late-onset Pompe disease is caused by a glycogen deposition involving mainly striated muscle. It may also target many other tissues such as liver, smooth muscles or spine anterior horn.
Lamartine S Monteiro, M +1 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman +18 more
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Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel +7 more
wiley +1 more source
Molecular Genetic Study of Pompe Disease in Chinese Patients in Taiwan
, 2009 Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mutations in the GAA gene have been reported worldwide. In order to elucidate the molecular basis of the disease in Taiwanese patients of Chinese origin, we
柯滄銘;胡務亮;林玉婉;曾麗慧;華筱玲;王作仁;莊壽洺 +1 more
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