Lista de obras -

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

artículo científico publicado en 2014

Antenatal manifestations of mitochondrial respiratory chain deficiency

artículo científico publicado en 2003

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

artículo científico publicado en 2015

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

artículo científico publicado en 2008

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

scientific article published on 14 September 2020

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

artículo científico publicado el 3 de octubre de 2011

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

artículo científico publicado en 2006

Familial focal congenital hyperinsulinism

artículo científico publicado en 2010

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

artículo científico publicado en 2014

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

artículo científico publicado en 2011

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

artículo científico publicado en 2011

Inborn errors of metabolism underlying primary immunodeficiencies

artículo científico

KATP channel mutations in congenital hyperinsulinism ⬇️

artículo científico publicado el 1 de febrero de 2011

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

artículo científico publicado en 2017

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

artículo científico publicado en 2012

Molecular mechanisms of neonatal hyperinsulinism

artículo científico publicado en 2006

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

artículo científico publicado en 2016

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

artículo científico publicado en 2010

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

artículo científico publicado en 2012

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

artículo científico publicado en 2012

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

artículo científico publicado en 2012

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

artículo científico publicado en 2008

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

artículo científico publicado en 2013

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

artículo científico publicado en 2010

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

artículo científico publicado en 2006

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

artículo científico publicado en 2009

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

artículo científico publicado en 2007

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

scientific article published on February 2009

Lista de obras de

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

Antenatal manifestations of mitochondrial respiratory chain deficiency

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

Familial focal congenital hyperinsulinism

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

Inborn errors of metabolism underlying primary immunodeficiencies

KATP channel mutations in congenital hyperinsulinism ⬇️

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Molecular mechanisms of neonatal hyperinsulinism

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism