Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. (Record no. 21930626)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01693 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516101900.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201302s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1531-8257 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mds.25008 |
| 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 | Serrano, Mercedes |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130214 |
| 245 00 - TITLE STATEMENT | |
| Title | Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Movement disorders : official journal of the Movement Disorder Society |
| Date of publication, distribution, etc. | Sep 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1295-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 | Alanine |
| General subdivision | analogs & derivatives |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Basal Ganglia |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Basal Ganglia Diseases |
| General subdivision | complications |
| 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 | Choline |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dystonic Disorders |
| General subdivision | etiology |
| 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 | 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 | Magnetic Resonance Spectroscopy |
| 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 | Membrane Transport Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rebollo, Mónica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Depienne, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rastetter, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernández-Álvarez, Emilio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muchart, Jordi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martorell, Loreto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Artuch, Rafael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Obeso, José A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez-Dueñas, Belén |
| 773 0# - HOST ITEM ENTRY | |
| Title | Movement disorders : official journal of the Movement Disorder Society |
| Related parts | vol. 27 |
| -- | no. 10 |
| -- | p. 1295-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mds.25008">https://doi.org/10.1002/mds.25008</a> |
| Public note | Available from publisher's website |
No items available.