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A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.
- Published in:
- Pharmaceuticals (14248247), 2024, v. 17, n. 5, p. 649, doi. 10.3390/ph17050649
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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
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
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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
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648
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- Publication type:
- Article
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636
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- Publication type:
- Article
A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report.
- Published in:
- Children, 2023, v. 10, n. 6, p. 1072, doi. 10.3390/children10061072
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- 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
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- Publication type:
- Article
Neurologic outcome following liver transplantation for methylmalonic aciduria.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 450, doi. 10.1002/jimd.12599
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- Publication type:
- Article
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 466, doi. 10.1002/jimd.12613
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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
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 10, p. N.PAG, doi. 10.3390/pharmaceutics14102230
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- Publication type:
- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
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- Publication type:
- journal 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
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
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- Publication type:
- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
- Published in:
- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
- Published in:
- 2022
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- Publication type:
- journal 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
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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
Postauthorization safety study of betaine anhydrous.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
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- Publication type:
- Article
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
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- 2022
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- Publication type:
- journal 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
Obituary for Claude Bachmann, MD (1941–2022).
- Published in:
- 2022
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- Publication type:
- Obituary
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
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01228-3
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- Publication type:
- Article
Pharmacokinetic Evaluation of Eltrombopag in ITP Pediatric Patients.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.772873
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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
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
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- Publication type:
- Article
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
- Published in:
- 2021
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- Publication type:
- journal 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
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- 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
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- Publication type:
- Article
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.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.
- Published in:
- 2021
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- Publication type:
- journal article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
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- Publication type:
- Article
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 593, doi. 10.1002/jimd.12318
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- Publication type:
- Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
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- Publication type:
- Article
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 705, doi. 10.1002/jimd.12344
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- Publication type:
- Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
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- Publication type:
- Article
U-IMD: the first Unified European registry for inherited metabolic diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1659, doi. 10.3390/ijerph18041659
- By:
- Publication type:
- Article
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
- Published in:
- 2021
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- Publication type:
- journal article
The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 12, p. 504, doi. 10.3390/metabo10120504
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- Publication type:
- Article
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
- Published in:
- 2020
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- Publication type:
- Correction Notice
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
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
- Published in:
- 2020
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- Publication type:
- journal article
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
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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.
- Published in:
- Biomedical Chromatography, 2020, v. 34, n. 10, p. 1, doi. 10.1002/bmc.4880
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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
Safety of vaccines administration in hereditary fructose intolerance.
- Published in:
- 2020
- By:
- Publication type:
- letter