List of works - Frédéric M Vaz

Acylcarnitines: reflecting or inflicting insulin resistance?

scientific article

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

scientific article published on 26 November 2020

C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome ⬇️

scientific article published on May 28, 2013

Carnitine Biosynthesis: Identification of the cDNA Encoding Human γ-Butyrobetaine Hydroxylase ⬇️

scientific article published on September 18, 1998

Carnitine biosynthesis in mammals

scientific article

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

scientific article published on 26 November 2020

Defining functional classes of Barth syndrome mutation in humans

scientific article

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

scientific article published on 28 October 2020

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

scientific article published on 01 January 2020

Identification of Metabolic Biomarkers in Relation to Methotrexate Response in Early Rheumatoid Arthritis

scientific article published on 10 December 2020

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

scientific article (publication date: September 2002)

Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

scientific article published in 2021

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

scientific article

Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment

scientific article published on 22 September 2020

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Neonatal carnitine concentrations in relation to gestational age and weight

scientific article published on 08 September 2020

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

scientific article

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU ⬇️

scientific article published on March 21, 2013

The cellular and molecular mechanisms for neutropenia in Barth syndrome ⬇️

scientific article published on December 4, 2011

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

scientific article

List of works by Frédéric M Vaz

Acylcarnitines: reflecting or inflicting insulin resistance?

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome ⬇️

Carnitine Biosynthesis: Identification of the cDNA Encoding Human γ-Butyrobetaine Hydroxylase ⬇️

Carnitine biosynthesis in mammals

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

Defining functional classes of Barth syndrome mutation in humans

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

Identification of Metabolic Biomarkers in Relation to Methotrexate Response in Early Rheumatoid Arthritis

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Neonatal carnitine concentrations in relation to gestational age and weight

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU ⬇️

The cellular and molecular mechanisms for neutropenia in Barth syndrome ⬇️

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.