Key features and clinical variability of COG6-CDG. (Record no. 25156452)

MARC details
000 -LEADER
fixed length control field 01878 a2200589 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517045129.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201608s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2015.07.003
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 Rymen, Daisy
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160829
245 00 - TITLE STATEMENT
Title Key features and clinical variability of COG6-CDG.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Nov 2015
300 ## - PHYSICAL DESCRIPTION
Extent 163-70 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adaptor Proteins, Vesicular Transport
General subdivision genetics
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Congenital Disorders of Glycosylation
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 Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glycosylation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Golgi Apparatus
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microcephaly
General subdivision etiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
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 Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Winter, Julia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Hasselt, Peter M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jaeken, Jaak
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kasapkara, Cigdem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gokçay, Gulden
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haijes, Hanneke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goyens, Philippe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tokatli, Aysegul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiel, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bartsch, Oliver
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hecht, Jochen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krawitz, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Prinsen, Hubertus C M T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mildenberger, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matthijs, Gert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kornak, Uwe
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 116
-- no. 3
-- p. 163-70
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2015.07.003">https://doi.org/10.1016/j.ymgme.2015.07.003</a>
Public note Available from publisher's website

No items available.