Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. (Record no. 8032183)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01529 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513055210.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199408s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0006-8950 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/117.3.435 |
| 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 | Matthews, P M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19940818 |
| 245 00 - TITLE STATEMENT | |
| Title | Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Jun 1994 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 435-43 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 | Base Sequence |
| 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 Expression Regulation, Enzymologic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 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 | Infant, Newborn |
| 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 | Molecular Sequence Data |
| 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 | Pyruvate Dehydrogenase Complex |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Dehydrogenase Complex Deficiency Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | X Chromosome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, R M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Otero, L J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marchington, D R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | LeGris, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howes, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meadows, L S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shevell, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scriver, C R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, G K |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 117 ( Pt 3) |
| -- | p. 435-43 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/117.3.435">https://doi.org/10.1093/brain/117.3.435</a> |
| Public note | Available from publisher's website |
No items available.