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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
- By:
- Publication type:
- journal article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
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- Publication type:
- Article
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 8, p. 428, doi. 10.3390/metabo14080428
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- Publication type:
- Article
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294
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- Publication type:
- Article
Short-term survival of hyperammonemic neonates treated with dialysis.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 5, p. 839, doi. 10.1007/s00467-014-2945-x
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- Publication type:
- Article
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
- Published in:
- 2019
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- Publication type:
- journal article
Analysis of LPI-causing mutations on y+LAT1 function and localization.
- Published in:
- 2019
- By:
- Publication type:
- journal article
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
- Published in:
- 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.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
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- Publication type:
- Article
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
- Published in:
- 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
Use of Antibiotics in Preterm Newborns.
- Published in:
- Antibiotics (2079-6382), 2022, v. 11, n. 9, p. 1142, doi. 10.3390/antibiotics11091142
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- Publication type:
- Article
Therapeutic Drug Monitoring of Amphotericin-B in Plasma and Peritoneal Fluid of Pediatric Patients after Liver Transplantation: A Case Series.
- Published in:
- Antibiotics (2079-6382), 2022, v. 11, n. 5, p. 640, doi. 10.3390/antibiotics11050640
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- Publication type:
- Article
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z
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- Publication type:
- Article
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 3, p. 403, doi. 10.1515/cclm-2016-0340
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- Publication type:
- Article
Clinical utility gene card for: Vici Syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142
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- Publication type:
- Article
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.
- Published in:
- Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3
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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
- By:
- Publication type:
- journal article
Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation.
- Published in:
- Diabetes, 2011, v. 60, n. 1, p. 209, doi. 10.2337/db10-0731
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- Publication type:
- Article
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
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- Publication type:
- Article
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.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5898, doi. 10.3390/ijms21165898
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- Publication type:
- Article
Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 21202, doi. 10.3390/ijms151121202
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- Publication type:
- Article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
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- Publication type:
- Article
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 83, doi. 10.1038/ng.2497
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- Publication type:
- Article
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 5, p. 485, doi. 10.1093/ejendo/lvad137
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- Publication type:
- Article
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
- Published in:
- Neuroradiology, 2020, v. 62, n. 10, p. 1315, doi. 10.1007/s00234-020-02501-0
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- Publication type:
- Article
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 11, p. 862, doi. 10.1007/s004670100702
- By:
- Publication type:
- Article
Hypoglycaemia Metabolic Gene Panel Testing.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.826167
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- Publication type:
- Article
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00937-x
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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.
- Published in:
- 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
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Publication type:
- Article
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.
- Published in:
- Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 55, doi. 10.1111/nyas.12426
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- Publication type:
- Article
Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 725, doi. 10.1002/pd.1970150807
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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.
- Published in:
- 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.
- Published in:
- 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
A new HPLC–DAD method for contemporary quantification of 10 antibiotics for therapeutic drug monitoring of critically ill pediatric patients.
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- Biomedical Chromatography, 2020, v. 34, n. 10, p. 1, doi. 10.1002/bmc.4880
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- Publication type:
- Article
MRI findings in an adolescent with type I citrullinaemia.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 2, p. 237, doi. 10.1007/s00247-007-0650-7
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- Publication type:
- Article
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047
- By:
- Publication type:
- Article
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1239, doi. 10.1007/s00439-021-02350-8
- By:
- Publication type:
- Article
ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5
- By:
- Publication type:
- Article
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
- By:
- Publication type:
- Article
Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.716520
- By:
- Publication type:
- 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.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1145111
- By:
- Publication type:
- Article
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Vici syndrome: a review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
- By:
- Publication type:
- Article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
- By:
- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
- By:
- Publication type:
- Article