Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. (Record no. 10314933)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01650 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513183830.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199907s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7192 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1006/mgme.1999.2852 |
| 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 | Ferreira, H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19990712 |
| 245 00 - TITLE STATEMENT | |
| Title | Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Jun 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 131-7 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 | Abnormalities, Multiple |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbohydrate Epimerases |
| General subdivision | antagonists & inhibitors |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytidine Monophosphate N-Acetylneuraminic Acid |
| General subdivision | pharmacology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Escherichia coli Proteins |
| 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 | Fibroblasts |
| General subdivision | enzymology |
| 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 | Intellectual Disability |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | N-Acetylneuraminic Acid |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sialic Acids |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Subcellular Fractions |
| General subdivision | enzymology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seppala, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinto, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huizing, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martins, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Braga, A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gomes, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krasnewich, D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sa Miranda, M C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, W A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 67 |
| -- | no. 2 |
| -- | p. 131-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1006/mgme.1999.2852">https://doi.org/10.1006/mgme.1999.2852</a> |
| Public note | Available from publisher's website |
No items available.