Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. (Record no. 29613906)

MARC details
000 -LEADER
fixed length control field 01629 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518034507.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202006s 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-2019-106005
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 Lenders, Malte
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200603
245 00 - TITLE STATEMENT
Title Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. 08 2019
300 ## - PHYSICAL DESCRIPTION
Extent 548-556 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 1-Deoxynojirimycin
General subdivision administration & dosage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell- and Tissue-Based Therapy
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Enzyme Replacement Therapy
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fabry Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Editing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HEK293 Cells
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 Molecular Chaperones
General subdivision administration & dosage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Precision Medicine
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trihexosylceramides
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element alpha-Galactosidase
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stappers, Franciska
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Niemietz, Christoph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmitz, Boris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boutin, Michel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ballmaier, Paula Johanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zibert, Andree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmidt, Hartmut
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brand, Stefan-Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Auray-Blais, Christiane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brand, Eva
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 56
-- no. 8
-- p. 548-556
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2019-106005">https://doi.org/10.1136/jmedgenet-2019-106005</a>
Public note Available from publisher's website

No items available.