Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. (Record no. 23646741)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01401 a2200349 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516202748.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201502s 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.2014.02.005 |
| 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 | Gautschi, Matthias |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150202 |
| 245 00 - TITLE STATEMENT | |
| Title | Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. |
| 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. | Jul 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 516-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dystonia |
| General subdivision | complications |
| 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 | Fucosidosis |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Globus Pallidus |
| General subdivision | pathology |
| 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 | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Diseases |
| General subdivision | complications |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merlini, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calza, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayflick, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nuoffer, Jean-Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fluss, Joel |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Related parts | vol. 18 |
| -- | no. 4 |
| -- | p. 516-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejpn.2014.02.005">https://doi.org/10.1016/j.ejpn.2014.02.005</a> |
| Public note | Available from publisher's website |
No items available.