PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. (Record no. 29579849)

MARC details
000 -LEADER
fixed length control field 02410 a2200733 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518033448.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202003s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1530-0366
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/s41436-019-0512-3
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 Bayat, Allan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200317
245 00 - TITLE STATEMENT
Title PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genetics in medicine : official journal of the American College of Medical Genetics
Date of publication, distribution, etc. 10 2019
300 ## - PHYSICAL DESCRIPTION
Extent 2216-2223 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 Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Acyltransferases
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 Developmental Disabilities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision genetics
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 Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glycosylphosphatidylinositols
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Infant, Newborn
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
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 Seizures
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knaus, Alexej
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Juul, Annika Wollenberg
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dukic, Dejan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gardella, Elena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Charzewska, Agnieszka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clement, Emma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hjalgrim, Helle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoffman-Zacharska, Dorota
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horn, Denise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horton, Rachel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hurst, Jane A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Josifova, Dragana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Larsen, Line H G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lascelles, Karine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Obersztyn, Ewa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pagnamenta, Alistair
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pal, Deb K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pendziwiat, Manuela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ryten, Mina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, Jenny
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vogt, Julie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weber, Yvonne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krawitz, Peter M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Helbig, Ingo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kini, Usha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Møller, Rikke S
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 21
-- no. 10
-- p. 2216-2223
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41436-019-0512-3">https://doi.org/10.1038/s41436-019-0512-3</a>
Public note Available from publisher's website

No items available.