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List of works by Pirjo Isohanni

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

scientific article

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

scientific article published on 28 August 2020

Genetic background of ataxia in children younger than 5 years in Finland

scientific article published on 05 June 2020

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'

scientific article published on 26 February 2018

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

The impact of gender, puberty, and pregnancy in patients with POLG disease

scientific article published on 18 September 2020

Using urine to diagnose large-scale mtDNA deletions in adult patients

scientific article published on 07 July 2020

Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients

scientific article published in 2021

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