Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. (Record no. 30015581)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02407 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518054344.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202004s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2019.07.015 |
| 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 | van Karnebeek, Clara D M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200402 |
| 245 00 - TITLE STATEMENT | |
| Title | Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 09 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 534-548 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aspartic Acid |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| 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 | Fatty Acid-Binding Proteins |
| 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 | Gene Knockdown Techniques |
| 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 | Malates |
| General subdivision | metabolism |
| 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 | Mice |
| 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 | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramos, Rúben J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wen, Xiao-Yan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarailo-Graovac, Maja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skrypnyk, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brand-Arzamendi, Koroboshka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karbassi, Farhad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Issa, Mahmoud Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Lee, Robin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drögemöller, Britt I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koster, Janet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rousseau, Justine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campeau, Philippe M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Youdong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cao, Feng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Meng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiter, Jos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ciapaite, Jolita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kluijtmans, Leo A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michel A A P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jans, Judith J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, Colin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wintjes, Liesbeth T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huigen, Marleen C D G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jia, Zhengping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, Hans R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wasserman, Wyeth W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanders, Ronald J A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verhoeven-Duif, Nanda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaki, Maha S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 105 |
| -- | no. 3 |
| -- | p. 534-548 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2019.07.015">https://doi.org/10.1016/j.ajhg.2019.07.015</a> |
| Public note | Available from publisher's website |
No items available.