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PMID: 4010717 Published · ppublish English Comparative Study Letter

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

The New England journal of medicine ·Vol. 313 ·No. 3 ·1985-07-18 ·Pages 187-8

Heymans HS, Oorthuys JW, Nelck G, Wanders RJ, Schutgens RB

Abstract

暂无摘要

MeSH Terms
Acyltransferases/deficiency Chondrodysplasia Punctata/diagnosis,metabolism Female Humans Microbodies/enzymology,metabolism Plasmalogens/metabolism Pregnancy Prenatal Diagnosis Syndrome
Chemicals
Plasmalogens Acyltransferases glycerone-phosphate O-acyltransferase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Heymans H S
Oorthuys J W
Nelck G
Wanders R J
Schutgens R B
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
0028-4793
Published
1985-07-18
Pages
187-8
Language
English
Region
United States
NLM ID
0255562
Subset
IM
External Links
PubMed source View journal details
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