Wolfgang Sperl

Salzburg, 5020, Austria

Last Updated: 09/26/2026

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Found 80 publications

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

One and one makes three-mothers' and fathers' attachment, mentalizing and parenting sensitivity.

One and one makes three-mothers' and fathers' attachment, mentalizing and parenting sensitivity.

Journal: Frontiers in psychology

Published: February 24, 2025

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Journal: Balkan journal of medical genetics : BJMG

Published: October 17, 2022

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Journal: Orphanet journal of rare diseases

Published: February 16, 2022

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Journal: International journal of neonatal screening

Published: December 14, 2021

Role of Energy Metabolism and Mitochondrial Function in Inflammatory Bowel Disease.

Role of Energy Metabolism and Mitochondrial Function in Inflammatory Bowel Disease.

Journal: Inflammatory bowel diseases

Published: September 08, 2021

Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.

Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.

Journal: Oxidative medicine and cellular longevity

Published: August 25, 2021

Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy.

Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy.

Journal: Neuropediatrics

Published: July 13, 2021

Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases

Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases

Journal: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde

Published: June 24, 2021

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Journal: International journal of neonatal screening

Published: April 18, 2021

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era.

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era.

Journal: Journal of mother and child

Published: November 12, 2020

Showing 1-12 of 80

Last Updated: 09/26/2026