Lista de obras -

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study

scientific article published on 25 August 2011

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

artículo científico

Assessing upper limb function in nonambulant SMA patients: Development of a new module

article

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

artículo científico publicado en 2020

CUGC for lysinuric protein intolerance (LPI)

scientific article published on 06 April 2020

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

artículo científico publicado en 2014

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

scientific article published on 19 July 2018

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

artículo científico publicado en 2012

Glutathione metabolism in cobalamin deficiency type C (cblC).

artículo científico publicado en 2013

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

artículo científico publicado en 2013

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

artículo científico publicado en 2013

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2010

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

artículo científico publicado en 2011

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

artículo científico publicado en 2014

Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive

scientific article published on 14 December 2019

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

artículo científico publicado en 2016

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study

artículo científico publicado en 2019

Lista de obras de

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Assessing upper limb function in nonambulant SMA patients: Development of a new module

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

CUGC for lysinuric protein intolerance (LPI)

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

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

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

Glutathione metabolism in cobalamin deficiency type C (cblC).

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study