Lista de obras -

Acylcarnitines: reflecting or inflicting insulin resistance?

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado el 28 de mayo de 2013

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

artículo científico publicado el 18 de septiembre de 1998

Carnitine biosynthesis in mammals

artículo científico publicado en 2002

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

artículo científico publicado en 2020

Defining functional classes of Barth syndrome mutation in humans

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2002

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

artículo científico publicado en 2021

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Neonatal carnitine concentrations in relation to gestational age and weight

artículo científico publicado en 2020

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

artículo científico publicado en 2017

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

artículo científico publicado el 21 de marzo de 2013

The cellular and molecular mechanisms for neutropenia in Barth syndrome ⬇️

artículo científico publicado el 4 de diciembre de 2011

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

artículo científico publicado en 2016

Lista de obras de

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