Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (Record no. 10663680)

MARC details
000 -LEADER
fixed length control field 01288 a2200385 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513203937.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200004s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0065-2598
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Jansen, G A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20000411
245 00 - TITLE STATEMENT
Title Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Advances in experimental medicine and biology
Date of publication, distribution, etc. 1999
300 ## - PHYSICAL DESCRIPTION
Extent 371-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cloning, Molecular
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fibroblasts
General subdivision enzymology
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 Liver
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mixed Function Oxygenases
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Open Reading Frames
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recombinant Proteins
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Refsum Disease
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Restriction Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reverse Transcriptase Polymerase Chain Reaction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Skin
General subdivision enzymology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ferdinandusse, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hogenhout, E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verhoeven, N M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jakobs, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wanders, R J
773 0# - HOST ITEM ENTRY
Title Advances in experimental medicine and biology
Related parts vol. 466
-- p. 371-6

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