Results 21 to 30 of about 2,907,636 (184)

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Case Reports in Neurological Medicine, 2014
Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of ...
Hiew Fu Liong, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, Shanthi Viswanathan   +5 more
doaj   +1 more source

Vitamin B-12 deficiency stimulates osteoclastogenesis via increased homocysteine and methylmalonic acid [PDF]

, 2009
The risk of nutrient deficiencies increases with age in our modern Western society, and vitamin B(12) deficiency is especially prevalent in the elderly and causes increased homocysteine (Hcy) and methylmalonic acid (MMA) levels.
Bravenboer, N., Vaes, Bart L T, Vaes, B.L.T., Everts, V., Wilma T. Steegenga, Bravenboer, Nathalie, Steegenga, W.T., Lute, Carolien, Carolien Lute, de Groot, L.C.P.G.M., Müller, M.R., Henk J. Blom, de Groot, C.P.G.M., Muller, M., Dhonukshe-Rutten, R.A.M., de Groot, Lisette C P G M, Dhonukshe-Rutten, R.A., Bart L. T. Vaes, Teun J. de Vries, Blom, Henk J, Nathalie Bravenboer, Groot, L.C.P.G.M. de, de Vries, Teun J, Müller, Michael, Everts, Vincent, Rosalie A. Dhonukshe-Rutten, Michael Müller, de Vries, T.J., Lisette C. P. G. M. de Groot, Dhonukshe-Rutten, Rosalie A, Steegenga, Wilma T, Groot, C.P.G.M., de, Lute, C., Vries, T. J., Blom, H.J., Everts, V, Vries, T.J., de, Vincent Everts   +37 more
core   +2 more sources

Infantile-onset Pompe disease: clinical case, diagnostic challenges and analysis of the effectiveness of enzyme replacement therapy

Zdorovʹe Rebenka
Background. Pompe disease (PD) is a genetic orphan progressive multisystem neuromuscular disorder that belongs to the group of lysosomal storage diseases and often leads to death. The only treatment available is lifelong enzyme replacement therapy (ERT).
N.V. Shyshkanova, M.V. Miroshnychenko, N.V. Samonenko, V.H. Ivanova, O.O. Dziuba, N.V. Olkhovych, Yu.A. Chornyi, L.V. Radchenko, E.V. Berezhna, V.V. Sokolenko, D.O. Kaminchenko   +10 more
doaj   +1 more source

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

Orphanet Journal of Rare Diseases, 2011
Background Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory function and may lead to ...
Reuser Arnold JJ, Hop Wim CJ, de Vries Juna M, Güngör Deniz, van Doorn Pieter A, van der Ploeg Ans T, Hagemans Marloes LC   +6 more
doaj   +1 more source

Effect of Calcium Deficiency on Growth and Leaf Acid Soluble Proteins of Tomato [PDF]

, 2007
The effects of temporary Ca (Ca) calcium deficiency lasting 2, 3, 4 or 5 d were investigated on tomato plants at the 6-leaf stage, grown hydroponically under controlled conditions.
Silvestre, Jérôme, Pinelli, Eric, Baboulène, Laurence, Morard, Philippe   +3 more
core   +1 more source

Integration of Nutrition and Organic Agriculture Framework in Managing Gastrointestinal Nematodes in Ruminants

Animal Research and One Health, EarlyView.
Gastrointestinal nematode infections damage the gastrointestinal epithelial tissues of ruminants, affecting nutrient utilization and overall production performance. This review outlines host‐gastrointestinal nematode interactions and discusses integrated control strategies, including nutritional supplementation, grazing management, vaccines, and ...
Wenxun Chen, Xiangfang Tang, Yimin Zhuang, Shengjun Zhao, Ying Ren, Xiaokang Lv   +5 more
wiley   +1 more source

Combining phenotypic, physiological, and multi‐omics studies to provide new insights on the role of 2,4‐epibrassinolide in regulation of seed shattering in Elymus sibiricus L.

Grassland Research, EarlyView.
Abstract Background Seed shattering limits the production of Elymus sibiricus L., and application of exogenous brassinosteroid significantly alleviates plant organ abscission. Methods To explore the potential regulatory network of brassinosteroid on seed shattering, the abscission zone of E. sibiricus cv. Lanyu No.
Huanhuan Lu, Yiyang Wan, Liuban Tang, Yongsen Qiu, Yancui Zhao, Yuying Zheng, Wengang Xie   +6 more
wiley   +1 more source

Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core   +1 more source

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

Pediatrics and Neonatology, 2013
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles.
Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee   +2 more
doaj   +1 more source

Diving Deeper Into Mechanisms of Acrylamide‐Induced Toxicity: RNA Sequencing Reveals Transcriptomic Alteration and Retrotransposon Expression in Drosophila melanogaster

Environmental Toxicology, Volume 41, Issue 10, Page 1105-1118, October 2026.
ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye, Titilayomi Ayomide Otenaike, Daniela Moreira Mombach, Monica Medeiros Silva, Amos Olalekan Abolaji, Elgion Lucio Da Silva Loreto   +5 more
wiley   +1 more source