Found: 25
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COVID-19 Vaccine in Inherited Metabolic Disorders Patients: A Cross-Sectional Study on Rate of Acceptance, Safety Profile and Effect on Disease.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 19, p. 12227, doi. 10.3390/ijerph191912227
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- Publication type:
- Article
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
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- Molecules, 2022, v. 27, n. 11, p. 3494, doi. 10.3390/molecules27113494
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- Publication type:
- Article
Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 276, doi. 10.1002/jmd2.12292
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- Publication type:
- Article
The Reciprocal Interplay between Infections and Inherited Metabolic Disorders.
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- Microorganisms, 2023, v. 11, n. 10, p. 2545, doi. 10.3390/microorganisms11102545
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- Publication type:
- Article
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 5, p. 664, doi. 10.1111/nan.12690
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- Publication type:
- Article
AFERESI IN ETÀ PEDIATRICA: PROCEDURE E OUTCOME.
- Published in:
- Giornale Italiano di Nefrologia, 2012, v. 29, p. S125
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- Publication type:
- Article
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS).
- Published in:
- 2022
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- Publication type:
- journal article
Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, p. 1, doi. 10.1186/s13023-021-02086-8
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- Article
Body Composition in Adolescent PKU Patients: Beyond Fat Mass.
- Published in:
- Children, 2022, v. 9, n. 9, p. N.PAG, doi. 10.3390/children9091353
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- Publication type:
- Article
Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?
- Published in:
- Children, 2022, v. 9, n. 8, p. 1164, doi. 10.3390/children9081164
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- Publication type:
- Article
COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center.
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- Children, 2021, v. 8, n. 9, p. 1, doi. 10.3390/children8090781
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- Publication type:
- Article
Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 705, doi. 10.1002/jimd.12602
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- Publication type:
- Article
Mid-aortic syndrome: long-term outcome of 36 children.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 11, p. 2225, doi. 10.1007/s00467-009-1242-6
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- Publication type:
- Article
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
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- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01117-2
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- Publication type:
- Article
Brain-Type Creatine Kinase Release from Cultured Osteoclasts Exposed to Neridronate in Children Affected by Osteogenesis Imperfecta Type 1.
- Published in:
- Biomedicines, 2023, v. 11, n. 2, p. 458, doi. 10.3390/biomedicines11020458
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- Publication type:
- Article
Mucopolisaccaridosi 1H (MPS-1H): studio del rimodellamento osseo.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 247
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- Publication type:
- Article
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.
- Published in:
- Acta Diabetologica, 2016, v. 53, n. 3, p. 499, doi. 10.1007/s00592-015-0793-1
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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
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
- Published in:
- 2013
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- Publication type:
- Case Study
Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 17024, doi. 10.3390/ijms242317024
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- Publication type:
- Article
Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients.
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- Nutrients, 2024, v. 16, n. 5, p. 669, doi. 10.3390/nu16050669
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- Publication type:
- Article
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 13, doi. 10.3390/nu16010013
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- Publication type:
- Article
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 12, p. 1863, doi. 10.1515/cclm-2018-1301
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- Publication type:
- Article
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Long-term continuous <italic>N</italic>-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study