A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene. (Record no. 21855227)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01404 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516095127.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201211s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1349-7235 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.2169/internalmedicine.51.6899 |
| 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 | Inoue, Shinichiro |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121105 |
| 245 00 - TITLE STATEMENT | |
| Title | A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Internal medicine (Tokyo, Japan) |
| Date of publication, distribution, etc. | 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1403-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ATP Binding Cassette Transporter, Subfamily D, Member 1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ATP-Binding Cassette Transporters |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adrenoleukodystrophy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dementia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatty Acids |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frontal Lobe |
| General subdivision | physiopathology |
| 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 | Magnetic Resonance Imaging |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Terada, Seishi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, Tadashi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ujike, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uchitomi, Yosuke |
| 773 0# - HOST ITEM ENTRY | |
| Title | Internal medicine (Tokyo, Japan) |
| Related parts | vol. 51 |
| -- | no. 11 |
| -- | p. 1403-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.2169/internalmedicine.51.6899">https://doi.org/10.2169/internalmedicine.51.6899</a> |
| Public note | Available from publisher's website |
No items available.