Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin. (Record no. 30641367)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01415 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518084840.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202108s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1563-5279 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1080/00207454.2020.1730831 |
| 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 | Xu, Hongliang |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210816 |
| 245 00 - TITLE STATEMENT | |
| Title | Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The International journal of neuroscience |
| Date of publication, distribution, etc. | Dec 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1192-1198 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 | Electron-Transferring Flavoproteins |
| General subdivision | genetics |
| 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 | Lipid Metabolism, Inborn Errors |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Riboflavin |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin B Complex |
| General subdivision | administration & dosage |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Xin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lian, Yajun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Shuya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ji, Tuo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Lu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Shuang |
| 773 0# - HOST ITEM ENTRY | |
| Title | The International journal of neuroscience |
| Related parts | vol. 130 |
| -- | no. 12 |
| -- | p. 1192-1198 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1080/00207454.2020.1730831">https://doi.org/10.1080/00207454.2020.1730831</a> |
| Public note | Available from publisher's website |
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