相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Role of peroxisomes in human lipid metabolism and its importance for neurological development
Ronald J. A. Wanders et al.
NEUROSCIENCE LETTERS (2017)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Tuva Baroy et al.
HUMAN MOLECULAR GENETICS (2015)
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
Rebecca Buchert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
The neurology of rhizomelic chondrodysplasia punctata
Annemieke M. Bams-Mengerink et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Functions of plasmalogen lipids in health and disease
Nancy E. Braverman et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3
Brandon Itzkovitz et al.
HUMAN MUTATION (2012)
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology
Gretchen Oswald et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports
T. D. Wardinsky et al.
CLINICAL GENETICS (2010)
Birth prevalence rates of skeletal dysplasias
Claude Stoll et al.
CLINICAL GENETICS (2010)
Natural history of rhizomelic chondrodysplasia punctata
AL White et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
N Braverman et al.
HUMAN MUTATION (2002)
分享论文
