New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. (Record no. 20132010)

MARC details
000 -LEADER
fixed length control field 01561 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516001143.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201009s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-330X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jnnp.2009.177089
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 Delnooz, C C S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100916
245 00 - TITLE STATEMENT
Title New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of neurology, neurosurgery, and psychiatry
Date of publication, distribution, etc. Sep 2010
300 ## - PHYSICAL DESCRIPTION
Extent 968-72 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 Acetylglucosaminidase
General subdivision blood
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 Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellar Ataxia
General subdivision complications
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 Magnetic Resonance Imaging
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Motor Neuron Disease
General subdivision complications
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sandhoff Disease
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element beta-Hexosaminidase beta Chain
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lefeber, D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Langemeijer, S M C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoffjan, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dekomien, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zwarts, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Engelen, B G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wevers, R A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schelhaas, H J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van de Warrenburg, B P C
773 0# - HOST ITEM ENTRY
Title Journal of neurology, neurosurgery, and psychiatry
Related parts vol. 81
-- no. 9
-- p. 968-72
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jnnp.2009.177089">https://doi.org/10.1136/jnnp.2009.177089</a>
Public note Available from publisher's website

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