ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. (Record no. 17122128)

MARC details
000 -LEADER
fixed length control field 02194 a2200637 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515072737.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200709s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2156
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/brain/awm135
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 Olsen, Rikke K J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20070906
245 00 - TITLE STATEMENT
Title ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Brain : a journal of neurology
Date of publication, distribution, etc. Aug 2007
300 ## - PHYSICAL DESCRIPTION
Extent 2045-54 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Acyl-CoA Dehydrogenase
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain Diseases, Metabolic
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carnitine
General subdivision analogs & derivatives
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron Transport
General subdivision physiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron-Transferring Flavoproteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatty Acids
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
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 Iron-Sulfur Proteins
General subdivision genetics
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 Metabolism, Inborn Errors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondria, Muscle
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Myopathies
General subdivision drug therapy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle, Skeletal
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidation-Reduction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases Acting on CH-NH Group Donors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Riboflavin
General subdivision therapeutic use
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Olpin, Simon E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Andresen, Brage S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Miedzybrodzka, Zofia H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pourfarzam, Morteza
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merinero, Begoña
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Frerman, Frank E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beresford, Michael W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dean, John C S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cornelius, Nanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Andersen, Oluf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Oldfors, Anders
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Holme, Elisabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gregersen, Niels
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Turnbull, Douglass M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morris, Andrew A M
773 0# - HOST ITEM ENTRY
Title Brain : a journal of neurology
Related parts vol. 130
-- no. Pt 8
-- p. 2045-54
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/brain/awm135">https://doi.org/10.1093/brain/awm135</a>
Public note Available from publisher's website

No items available.