Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. (Record no. 24434050)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01321 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517005239.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201508s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7206 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ymgme.2014.11.001 |
| 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 | Fu, Rong |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150807 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Jan 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 55-61 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanine |
| General subdivision | metabolism |
| 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 | Hypoxanthine |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypoxanthine Phosphoribosyltransferase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lesch-Nyhan Syndrome |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Purines |
| General subdivision | biosynthesis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sutcliffe, Diane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Hong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Xinyi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schretlen, David J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benkovic, Steve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jinnah, H A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 114 |
| -- | no. 1 |
| -- | p. 55-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2014.11.001">https://doi.org/10.1016/j.ymgme.2014.11.001</a> |
| Public note | Available from publisher's website |
No items available.