The Neurology of Rhizomelic Chondrodysplasia Punctata

Orphanet Journal of Rare Diseases - United Kingdom
doi 10.1186/1750-1172-8-174
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Rhizomelic Chondrodysplasia Punctata

2020English

Rhizomelic Chondrodysplasia Punctata: A Classic 'Spot' Diagnosis

BMJ Case Reports
Medicine
2011English

118: Multiple Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata

Pediatric Research
Child HealthPediatricsPerinatology
1988English

Chondrodysplasia Punctata

Medical Journal Armed Forces India
Medicine
1999English

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

Chondrodysplasia Punctata

English

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

Pediatric Research
Child HealthPediatricsPerinatology
1990English

X-Linked Dominant Chondrodysplasia Punctata

2020English

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

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy