Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. (Record no. 23021119)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02140 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516164745.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2013.154 |
| 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 | Gardeitchik, Thatjana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150212 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jul 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 888-95 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Agenesis of Corpus Callosum |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aldehyde Dehydrogenase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 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 | Cutis Laxa |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| 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 | Glycosylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanine Nucleotide Exchange Factors |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proton-Translocating ATPases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyrroline Carboxylate Reductases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | delta-1-Pyrroline-5-Carboxylate Reductase |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohamed, Miski |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischer, Björn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lammens, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefeber, Dirk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lace, Baiba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parker, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Ki-Joong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lim, Bing C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Häberle, Johannes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garavelli, Livia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jagadeesh, Sujatha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kariminejad, Ariana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerra, Deanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leão, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keski-Filppula, Riikka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nijtmans, Leo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Heuvel, Bert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kornak, Uwe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morava, Eva |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 22 |
| -- | no. 7 |
| -- | p. 888-95 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.154">https://doi.org/10.1038/ejhg.2013.154</a> |
| Public note | Available from publisher's website |
No items available.