Results 281 to 290 of about 556,889 (346)

A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE). [PDF]

Orphanet J Rare Dis
Laney DA, Banks KA, Botha EG, Keever M, Long V, Foley AL.   +5 more
europepmc   +1 more source

Molecular Hydrogen Therapy: Mechanisms, Delivery Methods, Preventive, and Therapeutic Application

MedComm, Volume 6, Issue 5, May 2025.
Molecular hydrogen, delivered through inhalation, hydrogen‐rich water, or hydrogen solution injection, reduces oxidative stress, regulates immune responses, facilitates cell repair, and alleviates inflammatory bowel disease (IBD) and intestinal injury.
Jiayi Jin, Lijun Yue, Maoru Du, Feng Geng, Xue Gao, Yuming Zhou, Qianqian Lu, Xiaohong Pan   +7 more
wiley   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of <i>GBE1</i> p.R156C and deletion exon 3-7. [PDF]

Front Genet
Zhu J, Yu HP, Zou J, Zhang YW, Han XQ, Xu ZY, Chen L, Chen Q, Gao MZ, Xie LJ, Zhang XK, Luo JW, Li YF, Zhang L.   +13 more
europepmc   +1 more source

Glycogen storage disease type I:clinical, biochemical and genetic aspects, and implications for treatment and follow-up (management of glycogen storage disease type I) [PDF]

, 2003
Rake, Jan Peter
core  

Foetal Mummification in Pregnant Dairy Cows Induces Variant Changes on the Hormonal Profile, Biochemical Parameters and Mineral Profile of the Dam

Veterinary Medicine and Science, Volume 11, Issue 3, May 2025.
A comprehensive investigation was conducted on the hormonal, biochemical, liver, kidney and mineral profiles of pregnant cows carrying mummified foetuses. The results showed a significant increase in glucose, albumin, triglycerides, cholesterol, globulin, total protein, urea, AST, ALP, bilirubin, iron and potassium in cows carrying mummified foetuses ...
Yahia A. Amin, Obeid Shanab, Ibrahim S. Zahran, Foad Farrag, Mariam A. Fawy, Mustafa Shukry, Mohamed Abdelmegeid, Eman M. Abu El‐Naga, Ragab H. Mohamed, Ahmed A. Elolimy   +9 more
wiley   +1 more source

Rhabdomyolysis as an Uncommon Manifestation of Anoctamin-5 Muscular Dystrophy. [PDF]

Eur J Case Rep Intern Med
Dias da Costa T, Rodrigues M, Mateus-Pinheiro A, Moreira S.   +3 more
europepmc   +1 more source

A deep learning approach for blood glucose monitoring and hypoglycemia prediction in glycogen storage disease. [PDF]

Sci Rep
Ryu JS, Ru JH, Kang Y, Yang S.
europepmc   +1 more source

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]

Metabolites
Lundqvist T, Stenlid R, Halldin M.
europepmc   +1 more source

Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel. [PDF]

Cureus
Furuta Y, Phillips JA.
europepmc   +1 more source