Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. (Record no. 27608807)

MARC details
000 -LEADER
fixed length control field 02946 a2200913 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517174955.0
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 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmedgenet-2017-104903
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 Schiff, Manuel
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180703
245 00 - TITLE STATEMENT
Title Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. 12 2017
300 ## - PHYSICAL DESCRIPTION
Extent 843-851 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
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
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 Congenital Disorders of Glycosylation
General subdivision 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 Follow-Up Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
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 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 Phosphotransferases (Phosphomutases)
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roda, Céline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Monin, Marie-Lorraine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arion, Alina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barth, Magali
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bednarek, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bidet, Maud
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bloch, Catherine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boddaert, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Borgel, Delphine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brassier, Anaïs
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brice, Alexis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bruneel, Arnaud
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Buissonnière, Roger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chabrol, Brigitte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chevalier, Marie-Chantal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cormier-Daire, Valérie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Barace, Claire
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Maistre, Emmanuel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Saint-Martin, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dorison, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Drouin-Garraud, Valérie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dupré, Thierry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Echenne, Bernard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Edery, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Feillet, François
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fontan, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Francannet, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Labarthe, François
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gitiaux, Cyril
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Héron, Delphine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hully, Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lamoureux, Sylvie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin-Coignard, Dominique
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mignot, Cyril
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morin, Gilles
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pascreau, Tiffany
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pincemaille, Olivier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polak, Michel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roubertie, Agathe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thauvin-Robinet, Christel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toutain, Annick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Viot, Géraldine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vuillaumier-Barrot, Sandrine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Seta, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Lonlay, Pascale
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 54
-- no. 12
-- p. 843-851
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2017-104903">https://doi.org/10.1136/jmedgenet-2017-104903</a>
Public note Available from publisher's website

No items available.