Birgit Haberberger

Munich, BY, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 8 publications

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Journal: European journal of human genetics : EJHG

Published: June 19, 2015

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Journal: Human molecular genetics

Published: November 27, 2014

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Journal: Journal of medical genetics

Published: December 25, 2013

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

Journal: Molecular genetics and metabolism

Published: December 18, 2013

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Journal: Journal of medical genetics

Published: April 14, 2012

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

Journal: Journal of inherited metabolic disease

Published: February 07, 2012

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Journal: Journal of medical genetics

Published: December 28, 2011

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Journal: American journal of human genetics

Published: November 11, 2011

Showing 1-8 of 8

Last Updated: 09/26/2026