Results 41 to 50 of about 4,895 (172)

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

Orphanet Journal of Rare Diseases
Background Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region.
Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser   +6 more
doaj   +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

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

, 1997
We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra-and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and
Grattagliano, B, Vanhoof, F., Lombet, J, Soyeur, D, Verloes, A., Koulischer, L., Massin, M, Rigo, J   +7 more
core   +1 more source

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

Deciphering Pigmented Rice Varieties as Sustainable and Unexplored Valuable Sources of Bioactive Components With Health‐Related Properties and Technological Applications—A Systematic Review

Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 1, January 2026.
ABSTRACT The interest in pigmented grains has grown substantially in recent years. Pigmented rice is crucial for diversifying agricultural production and promoting healthier, more balanced diets. This systematic review updates and discusses literature published between 2019 and 2024 on the bioactive compounds in pigmented rice, their potential health ...
Adolfo Pinheiro de Oliveira, Thatyane Mariano Rodrigues de Albuquerque, Evandro Leite de Souza   +2 more
wiley   +1 more source

Early Nutritional Programing: Unlocking the Potential of Fish for Sustainable Aquaculture

Aquaculture Nutrition, Volume 2026, Issue 1, 2026.
Nutritional programing, which explores the link between early nutritional conditions and their long‐term effects on animals, is a developing field within fish biology. Suboptimal nutritional status during early life is strongly associated with a higher risk of metabolic consequences later in life, including permanent growth retardation, impaired neural
Shivendra Kumar, Aditi Banik, Maneesh Kumar Dubey, Prem Prakash Srivastava, Zsuzsanna J. Sandor, Jianguang Qin   +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  

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Investigation of the Mechanism of Shen‐Ling‐Bai‐Zhu‐San Polysaccharide in Counteracting Lactose Intolerance Diarrhea Via Network Pharmacology, Molecular Docking, and Experimental Validation

Journal of Food Biochemistry, Volume 2026, Issue 1, 2026.
Background Lactose intolerance (LI)‐related diarrhea is a prevalent clinical gastrointestinal condition that severely compromises patients’ quality of life. While the traditional Chinese medicine formula Shen‐Ling‐Bai‐Zhu‐San (SL) has proven effective in managing this disorder, whether polysaccharides derived from SL (SLP) produce comparable ...
Chunfeng Mei, Lili Han, Mengxiong Lu, Hong Xue, Xiaolong Ji   +4 more
wiley   +1 more source