Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

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作者： Shifaniya Banu,Mohideen ^[1] ; Pitipanage Mihika Samindi,Fernando ^[2] ; Christian,Beetz ^[3] ; Sabine,Schroder ^[3] ; Catarina,Pereira ^[3] ; Senaka,Gunatilleke ^[4] ; Pyara,Rathnayake ^[5] ; Eresha,Jasinge ^[2]

作者单位： Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.;Department of Chemical Pathology, Medical Research Institute, Colombo, Sri Lanka. ^[1] Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. ^[2] Centogene GmbH, Rostock, Germany. ^[3] Neonatology Unit, Provincial General Hospital, Badulla, Sri Lanka. ^[4] Department of Pediatric Neurology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. ^[5]

关键词 DPYS gene TBX19 gene congenital isolated ACTH deficiency dihydropyrimidinase dihydropyrimidinuria

DOI 10.1093/labmed/lmae058

PMID 39126710

发布时间 2025-01-06

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