Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. (Record no. 20533573)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01824 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516021740.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1945-7197 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1210/jc.2010-1906 |
| 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 | Flanagan, Sarah E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110523 |
| 245 00 - TITLE STATEMENT | |
| Title | Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Mar 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E498-502 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diazoxide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diuretics |
| 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 | Genome-Wide Association Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Hyperinsulinism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypoglycemia |
| General subdivision | genetics |
| 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 | Infant, Newborn |
| 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 | Microsatellite Repeats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | physiology |
| 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 | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patch, Ann-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Locke, Jonathan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akcay, Teoman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simsek, Enver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alaei, Mohammadreza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yekta, Zeinab |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desai, Meena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kapoor, Ritika R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hussain, Khalid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ellard, Sian |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 96 |
| -- | no. 3 |
| -- | p. E498-502 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jc.2010-1906">https://doi.org/10.1210/jc.2010-1906</a> |
| Public note | Available from publisher's website |
No items available.