Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. (Record no. 28231845)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01468 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517210206.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201809s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1422-0067 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.3390/ijms19041010 |
| 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 | Puisac, Beatriz |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180905 |
| 245 00 - TITLE STATEMENT | |
| Title | Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | International journal of molecular sciences |
| Date of publication, distribution, etc. | Mar 2018 |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 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 | 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 | Hydroxymethylglutaryl-CoA Synthase |
| General subdivision | deficiency |
| 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 | Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | deficiency |
| 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 | Protein Multimerization |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcos-Alcalde, Iñigo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernández-Marcos, María |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tobajas Morlana, Pilar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Levtova, Alina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwahn, Bernd C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | DeLaet, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lace, Baiba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gómez-Puertas, Paulino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pié, Juan |
| 773 0# - HOST ITEM ENTRY | |
| Title | International journal of molecular sciences |
| Related parts | vol. 19 |
| -- | no. 4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.3390/ijms19041010">https://doi.org/10.3390/ijms19041010</a> |
| Public note | Available from publisher's website |
No items available.