Sacha Ferdinandusse

机构：Emma Kinderziekenhuis, Amsterdam Neuroscience, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam · ORCID：0000-0002-7738-5709

发表论文 224 篇 · 总被引 11480 次 · h-index 58

代表论文

• The physiological functions of human peroxisomes (2022 · Physiological Reviews · 被引 229)
• International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022 · Neurology · 被引 151)
• Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders (2020 · Frontiers in Cell and Developmental Biology · 被引 70)
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020 · Genetics in Medicine · 被引 53)
• Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses (2020 · International Journal of Neonatal Screening · 被引 48)
• Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease (2022 · Human Molecular Genetics · 被引 41)