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