Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. (Record no. 10359230)

MARC details
000 -LEADER
fixed length control field 01503 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513185446.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199909s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0964-6906
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/8.8.1509
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name van Grunsven, E G
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19990914
245 00 - TITLE STATEMENT
Title Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Aug 1999
300 ## - PHYSICAL DESCRIPTION
Extent 1509-16 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 17-Hydroxysteroid Dehydrogenases
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 3-Hydroxyacyl CoA Dehydrogenases
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cells, Cultured
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Enoyl-CoA Hydratase
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatal Outcome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Complementation Test
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hydro-Lyases
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Multienzyme Complexes
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Peroxisomal Disorders
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Peroxisomal Multifunctional Protein-2
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mooijer, P A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aubourg, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wanders, R J
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 8
-- no. 8
-- p. 1509-16
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/8.8.1509">https://doi.org/10.1093/hmg/8.8.1509</a>
Public note Available from publisher's website

No items available.