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Lista de obras de C Dionisi-Vici

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

artículo científico publicado en 2006

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

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

artículo científico publicado en 1998

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 new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pr

artículo científico publicado en 2016

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease

artículo científico publicado en 2014

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

artículo científico publicado en 1994

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

artículo científico

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

artículo científico publicado en 2016

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

artículo científico publicado en 2002

A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients

artículo científico publicado en 2000

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

artículo científico publicado en 2006

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

artículo científico publicado en 2014

ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

artículo científico publicado en 2021

Acute liver failure as presenting feature of tyrosinemia type 1 in a child with primary HHV-6 infection

artículo científico publicado en 2006

Acute pancreatitis in propionic acidaemia

artículo científico publicado en 1995

Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis

scientific article published on 13 March 2014

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

artículo científico publicado en 2015

Adherence to diet and quality of life in patients with phenylketonuria

artículo científico publicado en 2011

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

artículo científico publicado en 2016

Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease)

scientific article published on 01 October 2002

Allopurinol challenge test in children

artículo científico publicado en 1992

Analysis of Sanfilippo A gene mutations in a large pedigree

artículo científico publicado en 2003

Assessment of visual function in children with methylmalonic aciduria and homocystinuria.

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

artículo científico publicado en 2003

COG5-CDG: expanding the clinical spectrum

artículo científico publicado en 2012

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

artículo científico publicado en 2000

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

scientific article published on 01 September 1990

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

artículo científico publicado en 1993

Characterization of phenylketonuria alleles in the Italian population

scientific article published on 01 January 1995

Chronic liver involvement in urea cycle disorders

scientific article published on 25 August 2019

Citrin deficiency, a perplexing global disorder.

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

artículo científico publicado en 2001

Clinical features of 52 neonates with hyperinsulinism

artículo científico publicado en 1999

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Clinical utility gene card for: Vici Syndrome.

artículo científico publicado en 2013

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

artículo científico publicado en 2012

Cobalamin C defect presenting as severe neonatal hyperammonemia

scientific article published on 10 December 2010

Cobalamin C defect presenting with isolated pulmonary hypertension.

artículo científico publicado en 2013

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

scientific article published on 15 July 2010

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

artículo científico publicado en 2016

Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management

artículo científico publicado en 2010

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort

artículo científico publicado en 2013

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

artículo científico publicado en 2017

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

artículo científico publicado en 2018

Correction: COG5-CDG: expanding the clinical spectrum.

artículo científico publicado en 2013

Creatine metabolism in urea cycle defects

scientific article published on 30 May 2012

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

artículo científico publicado en 2014

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

scientific article published on 12 March 2012

Deferasirox-induced serious adverse reaction in a pediatric patient: pharmacokinetic and pharmacogenetic analysis

artículo científico publicado en 2015

Determination of medium chain fatty acids in serum

artículo científico publicado en 1988

Determination of plasma pipecolic acid by an easy and rapid liquid chromatography-tandem mass spectrometry method

artículo científico publicado en 2014

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

artículo científico publicado en 2016

Differential diagnosis of food protein-induced enterocolitis syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1.

artículo científico publicado en 2014

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

artículo científico publicado en 2005

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

artículo científico publicado en 2013

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

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

scientific article published on 01 November 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

artículo científico publicado en 2002

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

artículo científico publicado en 2016

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

artículo científico publicado en 2016

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

artículo científico publicado en 2001

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

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

artículo científico publicado en 2014

Fruit-induced FPIES masquerading as hereditary fructose intolerance

artículo científico publicado en 2014

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

artículo científico publicado en 1998

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

artículo científico publicado en 2011

Gender-related effects on urine L-cystine metastability.

artículo científico publicado en 2013

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

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

artículo científico publicado en 2016

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

scientific article published on 01 February 2006

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

artículo científico publicado en 2014

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

artículo científico publicado en 2017

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

artículo científico publicado en 2006

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

artículo científico publicado en 1996

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.

artículo científico publicado en 2011

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

Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient.

artículo científico publicado en 2013

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

artículo científico publicado en 2013

Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance

artículo científico publicado en 2012

Intravenous immune globulin in lysinuric protein intolerance

scientific article published on 01 April 1998

Involvement of respiratory muscles in cytoplasmic body myopathy — A pathological study—

artículo científico publicado en 1990

Jeune syndrome associated with cystinuria: report of two sisters

scientific article published on 01 November 1990

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

artículo científico publicado en 2015

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

artículo científico publicado en 2012

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I

artículo científico publicado en 2011

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Laryngeal stridor as a leading symptom in a biotinidase-deficient patient

artículo científico publicado en 1988

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

artículo científico publicado en 2009

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder ⬇️

artículo científico publicado el 17 de febrero de 2012

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

MRI and (1)H-MRS in adenosine kinase deficiency

artículo científico publicado en 2016

MRI and 1H-MRS findings in early-onset cobalamin C/D defect.

artículo científico publicado en 2005

MRI findings in an adolescent with type I citrullinaemia.

artículo científico publicado en 2007

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2013

Methylmalonic and propionic aciduria

artículo científico publicado en 2006

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

artículo científico publicado en 1998

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

artículo científico publicado en 2004

Mutation analysis in 16 patients with mtDNA depletion.

artículo científico publicado en 2003

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

artículo científico publicado en 1998

N-acetylaspartylglutamate in Canavan disease: an adverse effector?

artículo científico publicado en 1999

NTBC and Correction of Renal Dysfunction.

artículo científico publicado en 2017

Neonatal primary hyperparathyroidism masked by vitamin D deficiency

artículo científico publicado en 1994

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

artículo científico publicado en 1991

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

artículo científico publicado en 1997

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2006

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

artículo científico publicado en 2002

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

artículo científico publicado en 2009

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.

artículo científico publicado en 2013

Oxidative abnormalities in Menkes disease

artículo científico publicado en 2000

Pediatric reference intervals for muscle coenzyme Q(10).

artículo científico publicado en 2012

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

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

artículo científico publicado en 2008

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

article

Pharmacokinetic Evaluation of Eltrombopag in ITP Pediatric Patients

publication published on 06 December 2021

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

artículo científico publicado el 1 de junio de 1998

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

book by Nenad Blau

Plasma levels of homocysteine and cysteine increased in pediatric NAFLD and strongly correlated with severity of liver damage.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis

artículo científico publicado en 1990

Prenatal exclusion of purine nucleoside phosphorylase deficiency

scientific article published on 01 April 1986

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

artículo científico publicado en 2015

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

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

artículo científico publicado en 2014

Pyroglutamic aciduria and nephropathic cystinosis

artículo científico publicado en 1999

RFT1 deficiency in three novel CDG patients

artículo científico publicado en 2009

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

artículo científico publicado en 2017

Recommendations for the management of tyrosinaemia type 1

artículo científico publicado en 2013

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

artículo científico publicado en 2004

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

artículo científico publicado en 1996

Retinal degeneration.

artículo científico publicado en 2009

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

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

artículo científico publicado en 2007

Short-term survival of hyperammonemic neonates treated with dialysis

scientific article published on 04 September 2014

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS)

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

artículo científico publicado en 2002

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

artículo científico publicado en 2015

Suggested guidelines for the diagnosis and management of urea cycle disorders

artículo científico publicado en 2012

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

scientific journal article

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

artículo científico publicado en 2012

Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain

artículo científico publicado en 2016

The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy

scientific article published on 10 December 2020

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

artículo científico publicado en 2017

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

artículo científico publicado en 2017

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

scientific journal article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

artículo científico publicado en 2015

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

artículo científico publicado en 2017

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

artículo científico publicado en 2018

Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age

artículo científico publicado en 2020

Too late to say it is too early – How to get children with non‐cirrhotic metabolic diseases transplanted at the right time? ⬇️

artículo científico publicado el 5 de diciembre de 2011

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

artículo científico publicado en 2003

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

artículo científico publicado en 2000

Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome.

artículo científico publicado en 2010

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

artículo científico publicado en 2012

Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

artículo científico publicado en 2008

Vici syndrome: a review

artículo científico publicado en 2016

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

artículo científico publicado en 2007

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

artículo científico publicado en 2009

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

artículo científico publicado en 2014

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