[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. (Record no. 25865540)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01246 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517085657.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 spa d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1578-8989 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.medcli.2016.01.031 |
| 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 | Lario, Ana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170719 |
| 245 00 - TITLE STATEMENT | |
| Title | [New mutation in a young woman diagnosed with Niemann-Pick disease type C]. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Medicina clinica |
| Date of publication, distribution, etc. | Jun 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 494-6 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| 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 | Genetic Markers |
| 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 | Intracellular Signaling Peptides and Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Glycoproteins |
| General subdivision | genetics |
| 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 | Niemann-Pick C1 Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Niemann-Pick Disease, Type C |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Miguel, Carlos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ojeda, Emilio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gil, Santiago |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coll, María J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alfonso, Pilar |
| 773 0# - HOST ITEM ENTRY | |
| Title | Medicina clinica |
| Related parts | vol. 146 |
| -- | no. 11 |
| -- | p. 494-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.medcli.2016.01.031">https://doi.org/10.1016/j.medcli.2016.01.031</a> |
| Public note | Available from publisher's website |
No items available.