X-linked creatine transporter deficiency presenting as a mitochondrial disorder. (Record no. 19854563)

MARC details
000 -LEADER
fixed length control field 01508 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515224406.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201102s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1708-8283
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1177/0883073809352109
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 Hathaway, Samantha C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110222
245 00 - TITLE STATEMENT
Title X-linked creatine transporter deficiency presenting as a mitochondrial disorder.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of child neurology
Date of publication, distribution, etc. Aug 2010
300 ## - PHYSICAL DESCRIPTION
Extent 1009-12 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Biomarkers
General subdivision analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Creatine
General subdivision analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diagnosis, Differential
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Diseases, X-Linked
General subdivision genetics
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 Inclusion Bodies
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 Mitochondria
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Diseases
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nerve Tissue Proteins
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidative Stress
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Plasma Membrane Neurotransmitter Transport Proteins
General subdivision deficiency
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friez, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Limbo, Kimberly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parker, Colette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Salomons, Gajja S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vockley, Jerry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wood, Tim
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abdul-Rahman, Omar A
773 0# - HOST ITEM ENTRY
Title Journal of child neurology
Related parts vol. 25
-- no. 8
-- p. 1009-12
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1177/0883073809352109">https://doi.org/10.1177/0883073809352109</a>
Public note Available from publisher's website

No items available.