The natural history of classic galactosemia: lessons from the GalNet registry. (Record no. 29631866)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02413 a2200877 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518035037.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13023-019-1047-z |
| 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 | Rubio-Gozalbo, M E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191125 |
| 245 00 - TITLE STATEMENT | |
| Title | The natural history of classic galactosemia: lessons from the GalNet registry. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 86 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Cohort Studies |
| 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 | Galactosemias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Infant, Newborn |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Registries |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | UTP-Hexose-1-Phosphate Uridylyltransferase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haskovic, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bosch, A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burnyte, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coelho, A I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cassiman, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Couce, M L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dawson, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demirbas, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Derks, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eyskens, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Forga, M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grunewald, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Häberle, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hochuli, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hubert, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huidekoper, H H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janeiro, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kotzka, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knerr, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labrune, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Landau, Y E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Langendonk, J G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Möslinger, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Müller-Wieland, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murphy, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Õunap, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramadza, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivera, I A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scholl-Buergi, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stepien, K M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thijs, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tran, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vara, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Visser, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vos, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waisbren, S E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Welsink-Karssies, M M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wortmann, S B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gautschi, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Treacy, E P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berry, G T |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 14 |
| -- | no. 1 |
| -- | p. 86 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13023-019-1047-z">https://doi.org/10.1186/s13023-019-1047-z</a> |
| Public note | Available from publisher's website |
No items available.