Emil Kakkis

ORCID：0000-0002-7020-9921

发表论文 93 篇 · 总被引 6470 次 · h-index 40

代表论文

• Burosumab Therapy in Children with X-Linked Hypophosphatemia (2018 · New England Journal of Medicine · 被引 486)
• Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review (2015 · Molecular Genetics and Metabolism · 被引 113)
• A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy (2019 · Neurology · 被引 83)
• UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment (2017 · Molecular Genetics and Metabolism · 被引 81)
• A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease (2018 · Molecular Genetics and Metabolism · 被引 69)
• Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion (2017 · Neuromuscular Disorders · 被引 66)