[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. (Record no. 14477450)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 00930 a2200265 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514170335.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200404s 0 0 dut d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0028-2162 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Bosch, A M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040406 |
| 245 00 - TITLE STATEMENT | |
| Title | [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nederlands tijdschrift voor geneeskunde |
| Date of publication, distribution, etc. | Jan 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 80-1 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: English Abstract; Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Galactosemias |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | UTP-Hexose-1-Phosphate Uridylyltransferase |
| General subdivision | deficiency |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, H R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bakker, H D |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nederlands tijdschrift voor geneeskunde |
| Related parts | vol. 148 |
| -- | no. 2 |
| -- | p. 80-1 |
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