Results 281 to 290 of about 1,190,759 (343)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

A novel mouse model simulating C5 palsy after cervical surgery

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu   +8 more
wiley   +1 more source

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