A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency. (Record no. 24619196)

MARC details
000 -LEADER
fixed length control field 01409 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517015300.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201604s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1778-7254
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.jbspin.2014.12.011
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 Berody, Sandra
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160419
245 00 - TITLE STATEMENT
Title A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Joint bone spine
Date of publication, distribution, etc. Jul 2015
300 ## - PHYSICAL DESCRIPTION
Extent 240-4 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Multicenter Study
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
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 DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diagnosis, Differential
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Immunoglobulin D
General subdivision blood
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 Mevalonate Kinase Deficiency
General subdivision diagnosis
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 Phosphotransferases (Alcohol Group Acceptor)
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Referral and Consultation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retrospective Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Surveys and Questionnaires
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Galeotti, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koné-Paut, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Piram, Maryam
773 0# - HOST ITEM ENTRY
Title Joint bone spine
Related parts vol. 82
-- no. 4
-- p. 240-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.jbspin.2014.12.011">https://doi.org/10.1016/j.jbspin.2014.12.011</a>
Public note Available from publisher's website

No items available.