Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. (Record no. 23503477)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01007 a2200301 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516193821.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201402s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0004-5772 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Chauhan, V |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140228 |
| 245 00 - TITLE STATEMENT | |
| Title | Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of the Association of Physicians of India |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 346-8 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 | Gaucher Disease |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glucosylceramidase |
| General subdivision | genetics |
| 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 | India |
| 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 |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kumar, R V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mahesh, D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kashyap, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thakur, S |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of the Association of Physicians of India |
| Related parts | vol. 61 |
| -- | no. 5 |
| -- | p. 346-8 |
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