A Novel Homozygous <i>ALG12</i> Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.

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作者： Antonio Gennaro,Nicotera ^[1] ; Giulia,Spoto ^[1] ; Francesco,Calì ^[2] ; Giusi,Romeo ^[2] ; Antonino,Musumeci ^[2] ; Mirella,Vinci ^[2] ; Agata,Fiumara ^[3] ; Rita,Barone ^[3] ; Gabriella,Di Rosa ^[1] ; Sebastiano Antonino,Musumeci ^[2]

作者单位： Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy. ^[1] Oasi Research Institute - IRCCS, Troina, Italy. ^[2] Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy. ^[3]

关键词 ALG12 Congenital disorders of glycosylation Developmental delay Mild phenotype Missense mutation

DOI 10.1159/000516606

PMID 34602961

发布时间 2022-02-02

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