The neurology of rhizomelic chondrodysplasia punctata.

The neurology of rhizomelic chondrodysplasia punctata.

Item
http://www.wikidata.org/entity/Q34493856
Peroxisomes in brain development and functionHomeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress ParametersRare Case of Rhizomelic Chondrodysplasia Punctata.The important role of biochemical and functional studies in the diagnostics of peroxisomal disordersA case of rhizomelic chondrodysplasia punctata in newborn.Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Plasmalogen homeostasis - regulation of plasmalogen biosynthesis and its physiological consequence in mammals.A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.Congenital heart defects common in rhizomelic chondrodysplasia punctata.Growth charts for individuals with rhizomelic chondrodysplasia punctata.Peroxisome biogenesis disorders.
P2860

The neurology of rhizomelic chondrodysplasia punctata.

Item
http://www.wikidata.org/entity/Q34493856
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The neurology of rhizomelic chondrodysplasia punctata.
@ast
The neurology of rhizomelic chondrodysplasia punctata.
@en
The neurology of rhizomelic chondrodysplasia punctata.
@nl
type
label
The neurology of rhizomelic chondrodysplasia punctata.
@ast
The neurology of rhizomelic chondrodysplasia punctata.
@en
The neurology of rhizomelic chondrodysplasia punctata.
@nl
prefLabel
The neurology of rhizomelic chondrodysplasia punctata.
@ast
The neurology of rhizomelic chondrodysplasia punctata.
@en
The neurology of rhizomelic chondrodysplasia punctata.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P932
P356
P1433
P1476
The neurology of rhizomelic chondrodysplasia punctata.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P932