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Publications by Nancy E Braverman

Lipidomics Analysis of Peroxisomal Disorders: Discovery of Deficits in Phosphatidyglycerol Levels in Rhizomelic Chondrodysplasia Type 1

Journal of Data Mining in Genomics & Proteomics

English

Related publications

118: Multiple Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata

Pediatric Research

English

Rhizomelic Chondrodysplasia Punctata

English

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Aberrant Subcellular Localization of Peroxisomal 3-Ketoacyl-CoA Thiolase in the Zellweger Syndrome and Rhizomelic Chondrodysplasia Punctata

Pediatric Research

English

Functional Characterisation of Peroxisomal Β-Oxidation Disorders in Fibroblasts Using Lipidomics

Journal of Inherited Metabolic Disease

English

The Neurology of Rhizomelic Chondrodysplasia Punctata

Orphanet Journal of Rare Diseases

English

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients With Rhizomelic Chondrodysplasia Punctata Type 1

American Journal of Human Genetics

English

Rhizomelic Chondrodysplasia Punctata: A Classic 'Spot' Diagnosis

BMJ Case Reports

English

Oral Administration of a Synthetic Vinyl-Ether Plasmalogen Normalizes Open Field Activity in a Mouse Model of Rhizomelic Chondrodysplasia Punctata

DMM Disease Models and Mechanisms

Molecular Biology

English