Lista de obras -

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

artículo científico publicado en 2015

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

artículo científico publicado en 2012

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

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

artículo científico

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

Lista de obras de

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

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

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

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

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Spectrum of combined respiratory chain defects

The genotypic and phenotypic spectrum of MTO1 deficiency.