Scopus h-index:69
Article:439
Review Article:31
Comment/Debate:8
Letter:6
Editorial:3
Chapter:10
Selected Publications
- A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution
- Dersimelagon in Erythropoietic Protoporphyrias
- Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation
- Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
- Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortium
- JCL Roundtable: Enzyme replacement therapy for lipid storage disorders
- Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
- RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice
- Setleis syndrome: Genetic and clinical findings in a new case with epilepsy
- An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy