Results 81 to 90 of about 8,804 (200)
Journal of Food Science, Volume 91, Issue 6, June 2026.ABSTRACT Microwave‐assisted vacuum drying (MVD) is an emerging technology suitable for producing healthy snack foods, such as cheese snacks. This study aimed to produce a low‐fat, low‐salt, crunchy cheese snack using MVD. Low‐fat, low‐salt cheese slices were dried under seven different combinations of microwave power (5%–15%), vacuum level (220–300 ...
Vasıf Kubilay Ayrancı +4 more
wiley +1 more source
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 +8 more
doaj +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
core +1 more source
Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.Interface transmigration reprograms triple‐negative breast cancer cells, triggering a shared switch toward more aggressive and invasive phenotypes. Using a collagen I interface model, this study identifies shared transcriptional changes involving proliferation, chromatin remodeling, and DNA repair pathways.
Cornelia Clemens +3 more
wiley +1 more source
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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JIMD Reports, Volume 67, Issue 3, May 2026.Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch +13 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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Sensory neuropathy in patients with Pompe disease: a case series in Iran
BMC Musculoskeletal DisordersBackground Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of
Marzieh Babaee +6 more
doaj +1 more source
Development of Newborn Screening for Pompe Disease
, 2020 Pompe disease is an inborn error of lysosomal degradation of glycogen [...
Wuh-Liang Hwu, Yin-Hsiu Chien
core +1 more source
Clinical guidelines for late-onset Pompe disease [PDF]
, 2012 English version available at www.neurologia.comHasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo.
Illa, Isabel +12 more
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