Mark R. Garrelfs

机构：Amsterdam University Medical Centers, University of Amsterdam · ORCID：0000-0002-3857-5411

发表论文 19 篇 · 总被引 123 次 · h-index 5

代表论文

• Eculizumab in Pediatric Dense Deposit Disease (2015 · Clinical Journal of the American Society of Nephrology · 被引 60)
• The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort (2020 · Pediatric Neurology · 被引 15)
• Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta (2024 · Calcified Tissue International · 被引 13)
• Newborn screening for central congenital hypothyroidism: past, present and future (2025 · European Thyroid Journal · 被引 9)
• Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment (2023 · Hormone Research in Paediatrics · 被引 7)
• Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography (2022 · Molecular Genetics and Metabolism Reports · 被引 5)