Catarina Machado

机构：Hospital Prof. Dr. Fernando Fonseca · ORCID：0009-0000-8817-4117

发表论文 7 篇 · 总被引 53 次 · h-index 3

代表论文

• NGLY1 deficiency—A rare congenital disorder of deglycosylation (2020 · JIMD Reports · 被引 37)
• PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families (2023 · Calcified Tissue International · 被引 10)
• Microphthalmia with linear skin defects syndrome (MIDAS) (2019 · BMJ Case Reports · 被引 4)
• PARP inhibitors in HRD BRCAness breast cancer patients (2023 · Journal of Cancer Biology · 被引 2)
• Neoplasia Folicular Não Invasiva com Núcleos de Tipo Papilar em Struma Ovarii (2026 · Acta Médica Portuguesa)
• Diabetes mellitus secondary to BRCA2 gene mutation: the importance of insulin resistance and genetics in dysglycemia (2023 · Endocrine Abstracts)