Oral D-galactose supplementation in PGM1-CDG. (Record no. 27280248)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02544 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517160825.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201806s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2017.41 |
| 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 | Wong, Sunnie Yan-Wai |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180608 |
| 245 00 - TITLE STATEMENT | |
| Title | Oral D-galactose supplementation in PGM1-CDG. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 11 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1226-1235 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Administration, Oral |
| 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 | Blood Coagulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blood Glucose |
| General subdivision | metabolism |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Creatine Kinase |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dose-Response Relationship, Drug |
| 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 | Galactose |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease |
| General subdivision | drug therapy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycoproteins |
| 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 | Infant |
| 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 | Phosphoglucomutase |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pilot Projects |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | cytology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transferrin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gadomski, Therese |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Scherpenzeel, Monique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Honzik, Tomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hansikova, Hana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holmefjord, Katja S Brocke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mork, Marit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bowling, Francis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sykut-Cegielska, Jolanta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koch, Dieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hertecant, Jozef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Preston, Graeme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaeken, Jaak |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peeters, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perez, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, David Do |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crivelly, Kea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emmerzaal, Tim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibson, K Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raymond, Kimiyo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abu Bakar, Nurulamin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foulquier, Francois |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poschet, Gernot |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ackermann, Amanda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Miao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefeber, Dirk J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiel, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kozicz, Tamas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morava, Eva |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 19 |
| -- | no. 11 |
| -- | p. 1226-1235 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2017.41">https://doi.org/10.1038/gim.2017.41</a> |
| Public note | Available from publisher's website |
No items available.