Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. (Record no. 12525291)

MARC details
000 -LEADER
fixed length control field 01698 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514065447.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200403s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0031-3998
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1203/01.PDR.0000074972.36356.89
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 Koeberl, Dwight D
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040315
245 00 - TITLE STATEMENT
Title Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Pediatric research
Date of publication, distribution, etc. Aug 2003
300 ## - PHYSICAL DESCRIPTION
Extent 219-23 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Butyryl-CoA Dehydrogenase
General subdivision deficiency
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 Cells, Cultured
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fibroblasts
General subdivision cytology
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mass Spectrometry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Metabolism, Inborn Errors
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neonatal Screening
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases Acting on CH-CH Group Donors
General subdivision deficiency
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Young, Sarah P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gregersen, Niels S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vockley, Jerry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, Wendy E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Benjamin, Daniel Kelly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name An, Yan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weavil, Susan D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chaing, Shu H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bali, Deeksha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McDonald, Marie T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kishnani, Priya S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Y-T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Millington, David S
773 0# - HOST ITEM ENTRY
Title Pediatric research
Related parts vol. 54
-- no. 2
-- p. 219-23
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1203/01.PDR.0000074972.36356.89">https://doi.org/10.1203/01.PDR.0000074972.36356.89</a>
Public note Available from publisher's website

No items available.