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PMID: 14497974 Published · ppublish English Journal Article

Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.

The New England journal of medicine ·Vol. 267 ·1962-00-12 ·Pages 51-60

Schafer IA, Scriver CR, Efron ML

Abstract

暂无摘要

Keywords
BRAIN/diseases KIDNEY DISEASES/genetics
MeSH Terms
1-Pyrroline-5-Carboxylate Dehydrogenase/deficiency Amino Acid Metabolism, Inborn Errors Brain Brain Diseases Deafness Humans Kidney Diseases/genetics Proline Oxidase
Chemicals
1-Pyrroline-5-Carboxylate Dehydrogenase Proline Oxidase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Schafer I A
Scriver C R
Efron M L
Supplementary Concepts
Hyperprolinemia type 2 (Disease)
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
0028-4793
Published
1962-00-12
Pages
51-60
Language
English
Region
United States
NLM ID
0255562
Subset
OM
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