Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. (Record no. 17088511)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01907 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515071624.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0021-9738 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1172/JCI30954 |
| 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 | Galeano, Belinda |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070710 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical investigation |
| Date of publication, distribution, etc. | Jun 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1585-94 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Intramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Primers |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Models, Animal |
| 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 | Hexosamines |
| General subdivision | therapeutic use |
| 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 | Kidney Diseases |
| General subdivision | drug therapy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Glomerulus |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Inbred C57BL |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Mutant Strains |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Transgenic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microscopy, Electron |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Biological |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multienzyme Complexes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | N-Acetylneuraminic Acid |
| General subdivision | biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteinuria |
| General subdivision | drug therapy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klootwijk, Riko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manoli, Irini |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, MaoSen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ciccone, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darvish, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Starost, Matthew F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zerfas, Patricia M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Victoria J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoogstraten-Miller, Shelley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krasnewich, Donna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, William A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huizing, Marjan |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical investigation |
| Related parts | vol. 117 |
| -- | no. 6 |
| -- | p. 1585-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1172/JCI30954">https://doi.org/10.1172/JCI30954</a> |
| Public note | Available from publisher's website |
No items available.