Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (Record no. 16102427)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01748 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515015154.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200605s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1078-8956 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/nm1366 |
| 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 | Mills, Philippa B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060517 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in antiquitin in individuals with pyridoxine-dependent seizures. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature medicine |
| Date of publication, distribution, etc. | Mar 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 307-9 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 | Aldehyde Dehydrogenase |
| General subdivision | genetics |
| 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 | Bacterial Proteins |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CHO Cells |
| 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 | Cricetinae |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cricetulus |
| 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 | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidoreductases Acting on CH-NH Group Donors |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pipecolic Acids |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proline |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyridoxal Phosphate |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyridoxine |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Struys, Eduard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jakobs, Cornelis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plecko, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baxter, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumgartner, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michèl A A P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Omran, Heymut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tacke, Uta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uhlenberg, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weschke, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton, Peter T |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature medicine |
| Related parts | vol. 12 |
| -- | no. 3 |
| -- | p. 307-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/nm1366">https://doi.org/10.1038/nm1366</a> |
| Public note | Available from publisher's website |
No items available.