TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. (Record no. 25691097)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02400 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517075655.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2015.12.011 |
| 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 | Jansen, Jos C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160622 |
| 245 00 - TITLE STATEMENT | |
| Title | TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 322-30 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alkaline Phosphatase |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ceruloplasmin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cholesterol |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoplasmic Reticulum |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Golgi Apparatus |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeostasis |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transaminases |
| 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 | Timal, Sharita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Scherpenzeel, Monique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michelakakis, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicogne, Dorothée |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ashikov, Angel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moraitou, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huijben, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steenbergen, Gerry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Boogert, Marjolein A W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Porta, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvo, Pier Luigi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mavrikou, Mersyni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cenacchi, Giovanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Bogaart, Geert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salomon, Jody |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holleboom, Adriaan G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drenth, Joost P H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huynen, Martijn A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morava, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foulquier, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefeber, Dirk J |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 98 |
| -- | no. 2 |
| -- | p. 322-30 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.12.011">https://doi.org/10.1016/j.ajhg.2015.12.011</a> |
| Public note | Available from publisher's website |
No items available.