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List of works by Nancy Braverman

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies ⬇️

scientific article published on 07 March 2013

An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes ⬇️

scientific article published on August 1, 1998

Clinical, biochemical and molecular characterization of mild (nonclassic) Rhizomelic Chondrodysplasia Punctata

scientific article published on 18 December 2020

Functions of plasmalogen lipids in health and disease ⬇️

scientific article published on May 22, 2012

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations ⬇️

scientific article published on May 1, 2011

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata

scientific article published on 24 January 2020

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives ⬇️

scientific article published on January 1, 2013

Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids

scientific article published on 26 October 2018

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