Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W et al.
Bmc Medical Genetics, 2016
26843370 (PubMed )
Supplement: 12881_2016_273_MOESM1_ESM.xlsx › Sheet1
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
Wang JF et al.
Plos One, 2012
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Korman SH et al.
Journal of the Neurological Sciences, 2004
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