Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). (Record no. 26258330)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01012 a2200289 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517105710.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | ####s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2192-8304 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/8904_2016_559 |
| 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 | Balasubramaniam, Shanti |
| 245 00 - TITLE STATEMENT | |
| Title | Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | JIMD reports |
| Date of publication, distribution, etc. | 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 99-107 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewis, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mock, D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Said, H M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarailo-Graovac, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mattman, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Karnebeek, C D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorburn, D R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, R J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christodoulou, J |
| 773 0# - HOST ITEM ENTRY | |
| Title | JIMD reports |
| Related parts | vol. 33 |
| -- | p. 99-107 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/8904_2016_559">https://doi.org/10.1007/8904_2016_559</a> |
| Public note | Available from publisher's website |
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