Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. (Record no. 26496785)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01669 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517120920.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1573-2665 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10545-016-9978-1 |
| 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 | Hedberg-Oldfors, Carola |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171204 |
| 245 00 - TITLE STATEMENT | |
| Title | Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | 01 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 139-149 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biopsy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glucans |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glucosyltransferases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycoproteins |
| General subdivision | deficiency |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle, Skeletal |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glamuzina, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruygrok, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Lisa J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elliott, Perry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Watkinson, Oliver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Occleshaw, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abernathy, Malcolm |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turner, Clinton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kingston, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murphy, Elaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oldfors, Anders |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 40 |
| -- | no. 1 |
| -- | p. 139-149 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10545-016-9978-1">https://doi.org/10.1007/s10545-016-9978-1</a> |
| Public note | Available from publisher's website |
No items available.