First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. (Record no. 26722182)

MARC details
000 -LEADER
fixed length control field 01600 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517131812.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201807s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-5448
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/pedi.12479
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 Pomahačová, Renata
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180712
245 00 - TITLE STATEMENT
Title First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Pediatric diabetes
Date of publication, distribution, etc. Dec 2017
300 ## - PHYSICAL DESCRIPTION
Extent 844-847 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 Anemia, Megaloblastic
General subdivision genetics
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 Czech Republic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diabetes Mellitus
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 Hearing Loss, Sensorineural
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane Transport Proteins
General subdivision genetics
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 Thiamine Deficiency
General subdivision congenital
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zamboryová, Jana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sýkora, Josef
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paterová, Petra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fiklík, Karel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Votava, Tomáš
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Černá, Zdeňka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jehlička, Petr
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lád, Václav
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Šubrt, Ivan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dort, Jiří
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dortová, Eva
773 0# - HOST ITEM ENTRY
Title Pediatric diabetes
Related parts vol. 18
-- no. 8
-- p. 844-847
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/pedi.12479">https://doi.org/10.1111/pedi.12479</a>
Public note Available from publisher's website

No items available.