Marjan Huizing

机构：National Institutes of Health, National Human Genome Research Institute · ORCID：0000-0002-9375-9539

发表论文 242 篇 · 总被引 11833 次 · h-index 60

代表论文

• Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature (2023 · Journal of Medical Genetics · 被引 22)
• Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women (2024 · Clinical Pharmacology in Drug Development · 被引 6)
• Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies (2025 · Kidney International Reports · 被引 2)
• Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism (2025 · Scientific Reports · 被引 2)
• Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk (2025 · Parkinsonism & Related Disorders · 被引 2)
• Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder (2025 · Rare · 被引 2)