Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. (Record no. 25771148)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01345 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517082445.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201608s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1521-7035 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.clim.2016.02.008 |
| 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 | Kiykim, Ayca |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160831 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical immunology (Orlando, Fla.) |
| Date of publication, distribution, etc. | Apr 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endopeptidase Clp |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypertonia |
| General subdivision | etiology |
| 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 | Nervous System Diseases |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutropenia |
| General subdivision | etiology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garncarz, Wojciech |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karakoc-Aydiner, Elif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozen, Ahmet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kiykim, Ertugrul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yesil, Gozde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boztug, Kaan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baris, Safa |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical immunology (Orlando, Fla.) |
| Related parts | vol. 165 |
| -- | p. 1-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.clim.2016.02.008">https://doi.org/10.1016/j.clim.2016.02.008</a> |
| Public note | Available from publisher's website |
No items available.