Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. (Record no. 23030948)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01400 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516165114.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201312s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1879-0038 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.gene.2013.08.036 |
| 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 | Ortez, C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131224 |
| 245 00 - TITLE STATEMENT | |
| Title | Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Gene |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 302-6 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 | Brain |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 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 | GABAergic Neurons |
| General subdivision | physiology |
| 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 | Parkinsonian Disorders |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Carboxylase Deficiency Disease |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Synaptic Transmission |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tyrosine 3-Monooxygenase |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jou, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cortès-Saladelafont, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreno, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ormazábal, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez-Cerdá, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Artuch, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cusi, V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Cazorla, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Gene |
| Related parts | vol. 532 |
| -- | no. 2 |
| -- | p. 302-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.gene.2013.08.036">https://doi.org/10.1016/j.gene.2013.08.036</a> |
| Public note | Available from publisher's website |
No items available.