List of works - Carlo Dionisi-Vici

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

scientific article

Suggested guidelines for the diagnosis and management of urea cycle disorders

scientific article

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

scientific article

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

scientific article

Methylmalonic and propionic aciduria

scientific article

Clinical features of 52 neonates with hyperinsulinism

scientific article

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

scientific article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

scientific article published on June 1, 1998

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

scientific article

Recommendations for the management of tyrosinaemia type 1

scientific article

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

scientific article published in February 2008

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

scientific journal article

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

scientific article published in November 2001

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

scientific article

Cobalamin C defect: natural history, pathophysiology, and treatment.

scientific article published on 15 July 2010

The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience.

scientific article

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

scientific article published on January 2003

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

scientific article

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

scientific article published on 6 March 2014

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

scientific article published on 18 February 2013

New clinical phenotype of branched-chain acyl-CoA oxidation defect

scientific article published in The Lancet

Citrin deficiency, a perplexing global disorder.

scientific article published on 25 November 2008

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

scientific article

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

scientific article

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

scientific article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

scientific article

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

scientific article published on 06 August 2012

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

scientific article

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

scientific article

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

scientific article published in January 2003

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

scientific article published on 01 February 1992

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

scientific article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

scientific article

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

scientific article published on 31 July 2009

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

scientific article published on 8 August 2009

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

scientific article published on 01 February 1998

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

scientific article

Glutathione metabolism in cobalamin deficiency type C (cblC).

scientific article

Adherence to diet and quality of life in patients with phenylketonuria

scientific article published on 20 April 2011

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

scientific article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

COG5-CDG: expanding the clinical spectrum

scientific article published on 10 December 2012

List of works by Carlo Dionisi-Vici

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Suggested guidelines for the diagnosis and management of urea cycle disorders

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

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Methylmalonic and propionic aciduria

Clinical features of 52 neonates with hyperinsulinism

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

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

Recommendations for the management of tyrosinaemia type 1

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Cobalamin C defect: natural history, pathophysiology, and treatment.

The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience.

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

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

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

New clinical phenotype of branched-chain acyl-CoA oxidation defect

Citrin deficiency, a perplexing global disorder.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Glutathione metabolism in cobalamin deficiency type C (cblC).

Adherence to diet and quality of life in patients with phenylketonuria

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

COG5-CDG: expanding the clinical spectrum