Found: 6
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Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2073
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- Publication type:
- Article
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.869842
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- Publication type:
- 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
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3222, doi. 10.3390/jcm10153222
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- Article
SARS-CoV-2 infection in a patient with propionic acidemia.
- Published in:
- 2020
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- Publication type:
- case study
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Article