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Article

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Journal of inherited metabolic disease - 1 Sept 2012

Honzik Tomas, Tesarova Marketa, Magner Martin, Mayr Johannes, Jesina Pavel, Vesela Katerina, Wenchich Laszlo, Szentivanyi Karol, Hansikova Hana, Sperl Wolfgang, Zeman Jiri

Abstract excerpt

INTRODUCTION: Mitochondrial disorders (MD) may manifest in neonates, but early diagnosis is difficult. In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between specific mitochondrial diseases and their symptoms with the aim of optimizing diagnosis. MATERIALS AND METHODS: Retrospective clinical and laboratory data were evaluated in 461...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22231385
DOI: 10.1007/s10545-011-9440-3

Genes

SCO1
SCO2
SUCLG1
TMEM70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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