Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. (Record no. 18154739)

MARC details
000 -LEADER
fixed length control field 01565 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515131719.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201201s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-2665
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10545-008-0959-x
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 Rimella-Le-Huu, A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120111
245 00 - TITLE STATEMENT
Title Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of inherited metabolic disease
Date of publication, distribution, etc. Dec 2008
300 ## - PHYSICAL DESCRIPTION
Extent S381-6 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 Biomarkers
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child Development
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 Congenital Disorders of Glycosylation
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 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 Mannosyltransferases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurologic Examination
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 Transferrin
General subdivision analysis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Henry, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kern, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanquinet, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roulet-Perez, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, C J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Superti-Furga, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonafé, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ballhausen, D
773 0# - HOST ITEM ENTRY
Title Journal of inherited metabolic disease
Related parts vol. 31 Suppl 2
-- p. S381-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10545-008-0959-x">https://doi.org/10.1007/s10545-008-0959-x</a>
Public note Available from publisher's website

No items available.