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

Journal of Data Mining in Genomics & Proteomics
doi 10.4172/2153-0602.1000s1-001
Full Text
Abstract

Available in full text

Date
Authors
Publisher

OMICS Publishing Group

Related search

118: Multiple Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata

Pediatric Research
Child HealthPediatricsPerinatology
1988English

Rhizomelic Chondrodysplasia Punctata

2020English

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

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2015English

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

Pediatric Research
Child HealthPediatricsPerinatology
1990English

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

Journal of Inherited Metabolic Disease
Genetics
2017English

The Neurology of Rhizomelic Chondrodysplasia Punctata

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2013English

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
Genetics
2002English

Rhizomelic Chondrodysplasia Punctata: A Classic 'Spot' Diagnosis

BMJ Case Reports
Medicine
2011English

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
ImmunologyMolecular BiologyBiochemistryMicrobiology NeuroscienceMedicineGenetics
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy