Results 51 to 60 of about 2,907,636 (184)

Metabolic Disorders Presenting as Vacuolar Myopathy

Annals of Indian Academy of Neurology, 1999
Thirteen cases of vacuolar myopathy (6 males, 7 females), with age range of 4 months to 22 years and diagnosed over a period from 1986 to 1999, could be categorized into acid maltase deficiency (AMD) (n=6), carnitine deficiency (CD) (n=5), and ...
Gayathri N, Vasanth A, Das S, Gouri-Devi M, Ramamohan Y, Santosh V, Yasha T.C, Shankar S.K   +7 more
doaj  

A New Mutation of Pompe Disease in a 2-Month-Old Infant

Case Reports in Clinical Practice
Pompe disease or type 2 glycogen storage disease (GSD), is an autosomal recessive disorder, occurs by deficiency of an enzyme (acid maltase) which degrades glycogen in lysosomes.
Maryam Taraz, Mojtaba Gorj, Behdad Gharib, Vahid Ziaee   +3 more
doaj   +1 more source

A Network Pharmacology and Experimental Validation Strategy for Hypoglycemic Study of Lonicerae Japonicae Flos on Diabetes

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT As diabetes has become an important public health issue, Lonicerae Japonicae Flos (LJF) had gradually attracted increasing attention on diabetes. This study aimed to investigate the hypoglycemic ingredients and underlying mechanisms of LJF in diabetes using an integrated strategy of network pharmacology, molecular docking and experimental ...
Zhang Nan, Liu Xiaolong, Li Chunyan, Ren Lu, Guo Chao, Xue Jintao   +5 more
wiley   +1 more source

Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Journal of Mazandaran University of Medical Sciences, 2019
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency.
Maryam Bagheri, Nasrin Bazgir, Sajjad salari   +2 more
doaj  

Phytochemical Diversity, Nutritional Values, and Biological Properties of Halopithys incurva (Hudson) Batters, 1902

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Halopithys incurva is a red macroalga distributed across the Mediterranean Sea and North‐East Atlantic, with occasional reports from the Indian Ocean. It exhibits a rich chemical diversity, including isoflavones, bromophenols, MAAs, pigments, phycobiliproteins, primary metabolites, and neuroactive compounds.
Youssra Aalilou, Abdelhakim Bouyahya, Kaoutar Benrahou, Mustapha Hassoun, Hanaa Moussa, Issam Ameziane El Hassani, Waleed Al Abdulmonem, Learn‐Han Lee, Gokhan Zengin, My El Abbes Faouzi   +9 more
wiley   +1 more source

Juvenile acid maltase deficiency

, 2005
An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support.
Tuan Norhafizah binti Tuan Zakaria
core  

Adult Onset Acid Maltase Deficiency [Adult Basßlangiçli Asi·t Maltaz Eksi·kli·g i·]

, 2003
Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Three different clinical forms as infantile, juvenile and adult form have been descibed.
Koç F., Zorludemir S., Sarica Y.
core   +1 more source

The variability of Pompeʹs disease : a clinical, biochemical and genetic study of glycogen storage disease type 2, or acid maltase deficiency [PDF]

, 1979
Pompe's disease is an autosomal recessive metabolic disorder, characterized by storage of glycogen in organs and tissues, and associated with deficiency of the lysosomal enzyme acid maltase (acid a -I, 4-glucosidase, E. C. 3 .2.1.20).
Loonen, M.C.B. (Christa)
core   +1 more source

Oleoylethanolamide regulates intestinal stem cell activity and villus size via PPARα signaling pathway

iMetaOmics, Volume 3, Issue 1, March 2026.
First use of a natural swine model with lipid metabolism to directly link lipid differences to a quantifiable intestinal villus height phenotype. Identified the phospholipid‐derived oleoylethanolamide, rather than canonical fatty acids, as the endogenous primary ligand that activates peroxisome proliferator‐activated receptors α (PPARα) to enlarge ...
Qianqian Wang, Lanmei Yin, Zhaobin Wang, Jun Li, Xianglin Zeng, Qiye Wang, Jianzhong Li, Kang Xu, Huansheng Yang, Yulong Yin   +9 more
wiley   +1 more source

Year‐round rhythms: Alpine plant species modulate soil and microbial dynamics during the growing season and under the snow

Ecological Monographs, Volume 96, Issue 1, February 2026.
Abstract Soil–plant–microbe interactions are integral throughout most terrestrial ecosystems, yet the importance of plant phenology and seasonal dynamism upon these relationships remains unknown. Given the pronounced seasonality of alpine environments, we sampled eight plant species occurring in two habitats (alpine meadow and subnival zone) across ...
Adam Taylor Ruka, Johannes Schweichhart, Jiří Doležal, Kateřina Čapková, Zuzana Chlumská, Rosa Paulina Calvillo‐Medina, Travis B. Meador, Nadine Praeg, Paul Illmer, Roey Angel, Klára Řeháková   +10 more
wiley   +1 more source