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Article

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

The Journal of pediatrics - 1 Mar 2014

Al-Hussaini Abdulrahman, Faqeih Eissa, El-Hattab Ayman W, Alfadhel Majid, Asery Ali, Alsaleem Badr, Bakhsh Eman, Ali Ashraf, Alasmari Ali, Lone Khurram, Nahari Ahmed, Eyaid Wafaa, Al Balwi Mohammed, Craig Kate, Butterworth Anna, He Langping, Taylor Robert W

Abstract excerpt

OBJECTIVE: To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations. STUDY DESIGN: We studied 20 infants with suspected hepatocerebral MDS referred to our tertiary care...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24321534
DOI: 10.1016/j.jpeds.2013.10.082

Genes

DGUOK
MPV17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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