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Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report

BACKGROUND: Xp21 contiguous gene deletion syndrome is a rare genetic metabolic disorder with poor prognosis in infants, involving deletions of one or more genes in Xp21. When deletions of adrenal hypoplasia (AHC), Duchenne muscular dystrophy (DMD), and chronic granulomatosis (CGD) loci are included,...

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Detalles Bibliográficos
Autores principales:	Tao, Na, Liu, Xiaomei, Chen, Yueqi, Sun, Meiyuan, Xu, Fang, Su, Yanfang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9434940/ https://www.ncbi.nlm.nih.gov/pubmed/36050749 http://dx.doi.org/10.1186/s12887-022-03568-9

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