Works matching AU Dionisi Vici, Carlo
Results: 154
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
- Published in:
- 2021
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- Publication type:
- journal article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
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- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
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- Human Genetics, 2022, v. 141, n. 7, p. 1239, doi. 10.1007/s00439-021-02350-8
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- Article
ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
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- Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5
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- Publication type:
- Article
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Publication type:
- Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
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- Publication type:
- Article
Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.716520
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- Article
Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1145111
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- Publication type:
- Article
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
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- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214250
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- Publication type:
- Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
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- Article
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
- Published in:
- 2016
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- Publication type:
- journal article
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
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- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x
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- Publication type:
- Article
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.
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- Journal of Clinical Medicine, 2024, v. 13, n. 22, p. 6981, doi. 10.3390/jcm13226981
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- Publication type:
- Article
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.634
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- Article
Organ donation from patients with a rare disease is often safe: the italian guidelines.
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- Clinical Transplantation, 2022, v. 36, n. 9, p. 1, doi. 10.1111/ctr.14769
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- Publication type:
- Article
Renal Mitochondrial Cytopathies.
- Published in:
- 2011
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- Publication type:
- Journal Article
Renal Mitochondrial Cytopathies.
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- International Journal of Nephrology, 2011, p. 1, doi. 10.4061/2011/609213
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- Article
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.
- Published in:
- 2016
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- Publication type:
- journal article
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.
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- Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3
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- Publication type:
- Article
Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency.
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- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 725, doi. 10.1002/pd.1970150807
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- Publication type:
- Article
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
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- Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155
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- Publication type:
- Article
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.
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- Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479
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- Publication type:
- Article
RFT1 deficiency in three novel CDG patients.
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- Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
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- Publication type:
- Article
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.
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- Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930
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- Publication type:
- Article
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
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- Human Mutation, 2009, v. 30, n. 1, p. 93, doi. 10.1002/humu.20833
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- Publication type:
- Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
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- Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
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- Publication type:
- Article
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V
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- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
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- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.
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- Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294
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- Publication type:
- Article
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.
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- Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z
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- Article
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
- Published in:
- 2017
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- Publication type:
- journal article
Pediatric reference intervals for muscle coenzyme Q<sub>10</sub>.
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- Biomarkers, 2012, v. 17, n. 8, p. 764, doi. 10.3109/1354750X.2012.727029
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- Publication type:
- Article
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.
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- European Journal of Endocrinology, 2023, v. 189, n. 5, p. 485, doi. 10.1093/ejendo/lvad137
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- Publication type:
- Article
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.
- Published in:
- 2011
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- Publication type:
- journal article
Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation.
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- Diabetes, 2011, v. 60, n. 1, p. 209, doi. 10.2337/db10-0731
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- Publication type:
- Article
MRI findings in an adolescent with type I citrullinaemia.
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- Pediatric Radiology, 2008, v. 38, n. 2, p. 237, doi. 10.1007/s00247-007-0650-7
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- Article
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency.
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- Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1518344
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- Publication type:
- Article
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131
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- Publication type:
- Article
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-02997-8
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- Publication type:
- Article
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0
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- Publication type:
- Article
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
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- Annals of Neurology, 2003, v. 54, n. s6, p. S56
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- Publication type:
- Article
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8141, doi. 10.3390/ijerph19138141
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- Publication type:
- Article
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1659, doi. 10.3390/ijerph18041659
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- Publication type:
- Article
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 10, p. 3601, doi. 10.3390/ijerph17103601
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- Publication type:
- Article
Ethylmalonic encephalopathy : Further clinical and neuroradiological characterization.
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- Journal of Neurology, 2002, v. 249, n. 10, p. 1446, doi. 10.1007/s00415-002-0880-4
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- Publication type:
- Article
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
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- Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8
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- Publication type:
- Article
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
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- Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
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- Publication type:
- Article
Hypoglycaemia Metabolic Gene Panel Testing.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.826167
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- Publication type:
- Article
Clinical utility gene card for: Vici Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142
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- Article
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
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- Clinical Endocrinology, 2014, v. 81, n. 5, p. 679, doi. 10.1111/cen.12400
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- Publication type:
- Article