Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. (Record no. 20438179)

MARC details
000 -LEADER
fixed length control field 02911 a2200925 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516014737.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201103s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1945-7197
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1210/jc.2010-1024
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 Maimoun, Laurent
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110321
245 00 - TITLE STATEMENT
Title Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical endocrinology and metabolism
Date of publication, distribution, etc. Feb 2011
300 ## - PHYSICAL DESCRIPTION
Extent 296-307 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 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
General subdivision deficiency
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 Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Androgen-Insensitivity Syndrome
General subdivision diagnosis
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 Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dihydrotestosterone
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disorders of Sex Development
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Genitalia, Female
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genitalia, Male
General subdivision abnormalities
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 Heterozygote
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane 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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Genetic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Testosterone
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Philibert, Pascal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cammas, Benoit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Audran, Françoise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bouchard, Philippe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fenichel, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cartigny, Maryse
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pienkowski, Catherine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polak, Michel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Skordis, Nicos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mazen, Inas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ocal, Gonul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berberoglu, Merih
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reynaud, Rachel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baumann, Clarisse
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cabrol, Sylvie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simon, Dominique
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kayemba-Kay's, Kabangu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Kerdanet, Marc
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kurtz, François
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leheup, Bruno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heinrichs, Claudine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tenoutasse, Sylvie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Vliet, Guy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grüters, Annette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eunice, Marumudi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ammini, Ariachery C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hafez, Mona
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hochberg, Ze'ev
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Einaudi, Sylvia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al Mawlawi, Horia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nuñez, Cristóbal J del Valle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Servant, Nadège
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lumbroso, Serge
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paris, Françoise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sultan, Charles
773 0# - HOST ITEM ENTRY
Title The Journal of clinical endocrinology and metabolism
Related parts vol. 96
-- no. 2
-- p. 296-307
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1210/jc.2010-1024">https://doi.org/10.1210/jc.2010-1024</a>
Public note Available from publisher's website

No items available.