A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. (Record no. 12356444)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01359 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514055732.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200302s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0364-5134 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.10478 |
| 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 | Dey, Runu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030228 |
| 245 00 - TITLE STATEMENT | |
| Title | A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | Feb 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 273-7 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 | Acidosis, Lactic |
| General subdivision | congenital |
| 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 | Gene Deletion |
| 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, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn, Diseases |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Restriction Fragment Length |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Dehydrogenase (Lipoamide) |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Dehydrogenase Complex |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mine, Manuele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desguerre, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slama, Abdelhamid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Den Berghe, Loic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brivet, Michèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aral, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marsac, Cécile |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 53 |
| -- | no. 2 |
| -- | p. 273-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.10478">https://doi.org/10.1002/ana.10478</a> |
| Public note | Available from publisher's website |
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