An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. (Record no. 28309676)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01773 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517212509.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201902s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s12881-018-0566-0 |
| 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 | Lisyová, Jana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190225 |
| 245 00 - TITLE STATEMENT | |
| Title | An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC medical genetics |
| Date of publication, distribution, etc. | 04 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 64 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acyl-CoA Dehydrogenase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Butyryl-CoA Dehydrogenase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carnitine |
| General subdivision | analogs & derivatives |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ethnicity |
| 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 | Gene Frequency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | ethnology |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Restriction Fragment Length |
| 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 | Slovakia |
| General subdivision | ethnology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandoga, Ján |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jungová, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Repiský, Marcel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knapková, Mária |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Machková, Martina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dluholucký, Svetozár |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Behúlová, Darina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Šaligová, Jana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Potočňáková, Ľudmila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lysinová, Miroslava |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Böhmer, Daniel |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC medical genetics |
| Related parts | vol. 19 |
| -- | no. 1 |
| -- | p. 64 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s12881-018-0566-0">https://doi.org/10.1186/s12881-018-0566-0</a> |
| Public note | Available from publisher's website |
No items available.