Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations. (Record no. 27952844)

MARC details
000 -LEADER
fixed length control field 01467 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517193637.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201812s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1525-5069
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.yebeh.2017.12.012
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 Di Vito, Lidia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20181221
245 00 - TITLE STATEMENT
Title Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Epilepsy & behavior : E&B
Date of publication, distribution, etc. 02 2018
300 ## - PHYSICAL DESCRIPTION
Extent 169-173 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
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 Carbohydrate Metabolism, Inborn Errors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy, Generalized
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 Variation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glucose Transporter Type 1
General subdivision genetics
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Monosaccharide Transport Proteins
General subdivision deficiency
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 Seizures
General subdivision etiology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Licchetta, Laura
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pippucci, Tommaso
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baldassari, Sara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stipa, Carlotta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mostacci, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alvisi, Lara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tinuper, Paolo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bisulli, Francesca
773 0# - HOST ITEM ENTRY
Title Epilepsy & behavior : E&B
Related parts vol. 79
-- p. 169-173
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.yebeh.2017.12.012">https://doi.org/10.1016/j.yebeh.2017.12.012</a>
Public note Available from publisher's website

No items available.