Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in (Record no. 29574074)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02844 a2200925 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518033302.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201904s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1533-4406 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1056/NEJMoa1806627 |
| 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 | van Kuilenburg, André B P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190426 |
| 245 00 - TITLE STATEMENT | |
| Title | Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The New England journal of medicine |
| Date of publication, distribution, etc. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1433-1441 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Metabolism, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Atrophy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | pathology |
| 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 | Developmental Disabilities |
| General subdivision | genetics |
| 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 | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glutaminase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glutamine |
| General subdivision | analysis |
| 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 | Microsatellite Repeats |
| 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 | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarailo-Graovac, Maja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richmond, Phillip A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drögemöller, Britt I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouladi, Mahmoud A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leen, René |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brand-Arzamendi, Koroboshka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobritzsch, Doreen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dolzhenko, Egor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eberle, Michael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayward, Bruce |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jones, Meaghan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karbassi, Farhad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kobor, Michael S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koster, Janet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kumari, Daman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Meng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacIsaac, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonald, Cassandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meijer, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajan-Babu, Indhu-Shree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, Stephen W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sim, Bernice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trost, Brett |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tseng, Laura A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turkenburg, Marjolein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Vugt, Joke J F A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veldink, Jan H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walia, Jagdeep S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Youdong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Weeghel, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wright, Galen E B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xu, Xiaohong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yuen, Ryan K C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Jinqiu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, Colin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wasserman, Wyeth W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geraghty, Michael T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santra, Saikat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanders, Ronald J A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wen, Xiao-Yan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, Hans R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Usdin, Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Karnebeek, Clara D M |
| 773 0# - HOST ITEM ENTRY | |
| Title | The New England journal of medicine |
| Related parts | vol. 380 |
| -- | no. 15 |
| -- | p. 1433-1441 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1056/NEJMoa1806627">https://doi.org/10.1056/NEJMoa1806627</a> |
| Public note | Available from publisher's website |
No items available.