Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. (Record no. 24767273)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02048 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517024205.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201607s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2015.22 |
| 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 | Diekman, Eugene F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160714 |
| 245 00 - TITLE STATEMENT | |
| Title | Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 989-94 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | 3-Hydroxyacyl CoA Dehydrogenases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acetyl-CoA C-Acyltransferase |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acyl-CoA Dehydrogenase, Long-Chain |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbon-Carbon Double Bond Isomerases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Bone Marrow Failure Syndromes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Denmark |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enoyl-CoA Hydratase |
| 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, Newborn |
| 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 | Mitochondrial Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidation-Reduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Racemases and Epimerases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferdinandusse, Sacha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Pol, Ludo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, Hans R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiter, Jos P N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ijlst, Lodewijk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanders, Ronald J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houten, Sander M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wijburg, Frits A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blank, A Christiaan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Asselbergs, Folkert W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houtkooper, Riekelt H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Visser, Gepke |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 17 |
| -- | no. 12 |
| -- | p. 989-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2015.22">https://doi.org/10.1038/gim.2015.22</a> |
| Public note | Available from publisher's website |
No items available.