Melanie T. Achleitner

Salzburg, 5020, Austria

Last Updated: 09/26/2026

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Found 14 publications

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology

Published: February 21, 2025

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 23, 2024

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Journal: Hepatology communications

Published: April 30, 2024

The phenotypic spectrum of PTCD3 deficiency.

The phenotypic spectrum of PTCD3 deficiency.

Journal: JIMD reports

Published: February 26, 2024

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Journal: JIMD reports

Published: January 23, 2024

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

Journal: Metabolites

Published: July 14, 2023

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.

Journal: Neuropediatrics

Published: January 05, 2023

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.

Journal: Frontiers in neurology

Published: October 07, 2022

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Journal: Human molecular genetics

Published: July 24, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 08, 2022

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Journal: Annals of neurology

Published: August 23, 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

Showing 1-12 of 14

Last Updated: 09/26/2026