Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. (Record no. 16916337)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02111 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515061534.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/awm026 |
| 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 | Mihaylova, Violeta |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070530 |
| 245 00 - TITLE STATEMENT | |
| Title | Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Apr 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1050-61 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 | Adult |
| 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Central Nervous System Diseases |
| General subdivision | complications |
| 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 | Cognition Disorders |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 | Fluorescein Angiography |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Macula Lutea |
| General subdivision | pathology |
| 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 | Mental Disorders |
| General subdivision | complications |
| 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 | Niemann-Pick Diseases |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peripheral Nervous System Diseases |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sphingomyelin Phosphodiesterase |
| General subdivision | deficiency |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hantke, Janina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sinigerska, Ivanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cherninkova, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raicheva, Margarita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouwer, Sonja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tincheva, Radka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khuyomdziev, Djako |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertranpetit, Jaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandler, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Angelicheva, Dora |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremensky, Ivo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seeman, Pavel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tournev, Ivailo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kalaydjieva, Luba |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 130 |
| -- | no. Pt 4 |
| -- | p. 1050-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awm026">https://doi.org/10.1093/brain/awm026</a> |
| Public note | Available from publisher's website |
No items available.