Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. (Record no. 26370968)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02002 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517113129.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201706s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.12855 |
| 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 | Shahrour, M A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170602 |
| 245 00 - TITLE STATEMENT | |
| Title | Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | May 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 690-696 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Triphosphatases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | Epilepsy |
| General subdivision | genetics |
| 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 | Infant |
| 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 Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Encephalomyopathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Precursor Protein Import Complex Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proton-Translocating ATPases |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Staretz-Chacham, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dayan, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stephen, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weech, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Damseh, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pri Chen, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edvardson, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazaheri, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saada, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hershkovitz, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaag, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huizing, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abu-Libdeh, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, W A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azem, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anikster, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vilboux, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elpeleg, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malicdan, M C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 91 |
| -- | no. 5 |
| -- | p. 690-696 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.12855">https://doi.org/10.1111/cge.12855</a> |
| Public note | Available from publisher's website |
No items available.