Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. (Record no. 25209781)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01523 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517050943.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-8652 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajh.24178 |
| 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 | Mañú-Pereira, María Del Mar |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160602 |
| 245 00 - TITLE STATEMENT | |
| Title | Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of hematology |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E217-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anemia, Hemolytic, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anemia, Hemolytic, Congenital Nonspherocytic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 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 | Paternal Exposure |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Kinase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyruvate Metabolism, Inborn Errors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonzalez-Roca, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Solinge, Wouter W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Llaudet-Planas, Esther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sevilla, Julián |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montllor, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mensa-Vilaro, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ploos van Amstel, Hans Kristian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Wijk, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vives-Corrons, JoanLluis |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of hematology |
| Related parts | vol. 90 |
| -- | no. 12 |
| -- | p. E217-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajh.24178">https://doi.org/10.1002/ajh.24178</a> |
| Public note | Available from publisher's website |
No items available.