[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. (Record no. 26165765)

MARC details
000 -LEADER
fixed length control field 01555 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517102930.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201607s 0 0 jpn d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0029-0831
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Morisada, Naoya
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160721
245 00 - TITLE STATEMENT
Title [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. No to hattatsu = Brain and development
Date of publication, distribution, etc. May 2016
300 ## - PHYSICAL DESCRIPTION
Extent 209-12 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; English Abstract; 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Autophagy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carrier Proteins
General subdivision genetics
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 Delayed Diagnosis
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Iron Metabolism Disorders
General subdivision diagnosis
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 Neuroaxonal Dystrophies
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Rett Syndrome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tsuneishi, Syuichi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taguchi, Kazuhiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yagi, Ryuzaburo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nishiyama, Masahiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toyoshima, Daisaku
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nakagawa, Taku
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Takeshima, Yasuhiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Takada, Satoshi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iijima, Kazumoto
773 0# - HOST ITEM ENTRY
Title No to hattatsu = Brain and development
Related parts vol. 48
-- no. 3
-- p. 209-12

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