Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. (Record no. 22115663)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02055 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516112426.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201310s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2012.202 |
| 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 | Fragaki, Konstantina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131017 |
| 245 00 - TITLE STATEMENT | |
| Title | Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 528-34 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 | Alkyl and Aryl Transferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Annexin A5 |
| General subdivision | metabolism |
| 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 | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 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 | Epilepsy |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Globosides |
| General subdivision | metabolism |
| 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 | Magnetic Resonance Imaging |
| 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 | Mass Spectrometry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Potential, Mitochondrial |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Diseases |
| General subdivision | pathology |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sialyltransferases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spectrophotometry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ait-El-Mkadem, Samira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaussenot, Annabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gire, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mengual, Raymond |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonesso, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bénéteau, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ricci, Jean-Ehrland |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desquiret-Dumas, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Procaccio, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rötig, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paquis-Flucklinger, Véronique |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 21 |
| -- | no. 5 |
| -- | p. 528-34 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2012.202">https://doi.org/10.1038/ejhg.2012.202</a> |
| Public note | Available from publisher's website |
No items available.