Fernando Scaglia

机构：Baylor College of Medicine, Prince of Wales Hospital, Texas Children's Hospital, Baylor Genetics, University of Hong Kong · ORCID：0000-0003-3502-8460

发表论文 312 篇 · 总被引 15573 次 · h-index 68

代表论文

Causes of mortality in the congenital disorders of glycosylation (2025 · Molecular Genetics and Metabolism · 被引 4)
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes (2025 · Molecular Genetics and Metabolism · 被引 3)
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency (2026 · Brain Communications · 被引 2)
TPI deficiency: A case report and review of the literature (2025 · Molecular Genetics and Metabolism · 被引 2)
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency (2025 · American Journal of Medical Genetics Part A · 被引 2)
Signs, symptoms, and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives (2025 · Journal of Patient-Reported Outcomes · 被引 1)