Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. (Record no. 27415814)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01502 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517165028.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201805s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1532-2130 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejpn.2017.07.003 |
| 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 | Sinnige, P F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180509 |
| 245 00 - TITLE STATEMENT | |
| Title | Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Date of publication, distribution, etc. | Nov 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 912-920 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 | Aldehyde Dehydrogenase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cutis Laxa |
| General subdivision | diagnostic imaging |
| 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 | Infant |
| 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 | Neuroimaging |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Ravenswaaij-Arts, C M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caruso, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, A E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boon, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahikkala, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callewaert, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meiners, L C |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Related parts | vol. 21 |
| -- | no. 6 |
| -- | p. 912-920 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejpn.2017.07.003">https://doi.org/10.1016/j.ejpn.2017.07.003</a> |
| Public note | Available from publisher's website |
No items available.