A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING. (Record no. 29766475)

MARC details
000 -LEADER
fixed length control field 01688 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518043014.0
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 1984-0462
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1590/1984-0462/;2019;37;4;00017
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 Borges, Maria de Fátima
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200311
245 00 - TITLE STATEMENT
Title A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Date of publication, distribution, etc. 2019
300 ## - PHYSICAL DESCRIPTION
Extent 520-524 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 Adult
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 Hypothyroidism
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Delayed Diagnosis
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 Markers
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 Neonatal Screening
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Thyrotropin, beta Subunit
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Domené, Horacio Mario
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scaglia, Paula Alejandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lara, Beatriz Hallal Jorge
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Palhares, Heloísa Marcelina da Cunha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santos, Andréia Vasconcelos Aguiar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gonçalves, Amanda Lacerda Ferreira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Oliveira, Marília Matos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marqui, Alessandra Bernadete Trovó de
773 0# - HOST ITEM ENTRY
Title Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Related parts vol. 37
-- no. 4
-- p. 520-524
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1590/1984-0462/;2019;37;4;00017">https://doi.org/10.1590/1984-0462/;2019;37;4;00017</a>
Public note Available from publisher's website

No items available.