Results 221 to 230 of about 7,289,232 (294)

MCVAE-based multi-omic anomaly detection in Fragile X Syndrome.

open access: yesNAR Mol Med
Khatir W   +3 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan   +23 more
wiley   +1 more source

Diabetic Peripheral Neuropathy With Low Appendicular Muscle Mass Is Associated With Osteoporosis, Falls, and Fractures

open access: yesJournal of Diabetes, Volume 18, Issue 11, November 2026.
Diabetics have higher risks of osteoporosis, falls, and fractures; higher grip strength predicts lower risks. In both cross‐sectional and longitudinal data, diabetic patients with both peripheral neuropathy and low appendicular muscle mass have the highest risks of osteoporosis and falls.
Biao Zheng   +6 more
wiley   +1 more source

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome. [PDF]

open access: yesNeurobiol Dis
Bergdolt L   +12 more
europepmc   +1 more source

Global Prognostic Impact of Substance Use in Alcohol‐Associated Hepatitis

open access: yesAlcohol, Clinical and Experimental Research, Volume 50, Issue 11, November 2026.
Alcohol‐associated hepatitis (AH) carries high short‐term mortality, yet behavioral risk factors are not captured by current prognostic models. In this multinational cohort of 814 patients, active cannabis use independently predicted mortality after accounting for liver disease severity and transplantation as a competing‐risk.
Omar Albhaisi   +49 more
wiley   +1 more source

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