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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyHuman molecular genetics, 2023-03, Vol.32 (6), p.917-933 [Peer Reviewed Journal]The Author(s) 2022. Published by Oxford University Press. 2022 ;The Author(s) 2022. Published by Oxford University Press. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddac246 ;PMID: 36190515Full text available |
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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaAnnals of neurology, 2015-10, Vol.78 (4), p.606-618 [Peer Reviewed Journal]2015 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association ;2015 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association. ;2015 American Neurological Association ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.24485 ;PMID: 26179960Full text available |
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTGenetics in medicine, 2017-01, Vol.19 (1), p.104-111 [Peer Reviewed Journal]2017 The Author(s) ;Copyright Nature Publishing Group Jan 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.74 ;PMID: 27362913Full text available |
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Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia PatientInternational journal of molecular sciences, 2024-03, Vol.25 (5), p.2814 [Peer Reviewed Journal]COPYRIGHT 2024 MDPI AG ;2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2024 by the authors. 2024 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25052814 ;PMID: 38474060Full text available |
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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtypeOrphanet journal of rare diseases, 2024-04, Vol.19 (1), p.150-150 [Peer Reviewed Journal]2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-024-03172-3 ;PMID: 38589924Full text available |
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Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAmerican journal of human genetics, 2016-11, Vol.99 (5), p.1172-1180 [Peer Reviewed Journal]2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Nov 3, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.09.004 ;PMID: 27773429Full text available |
| 7 |
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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humansHuman genetics, 2016-11, Vol.135 (11), p.1263-1268 [Peer Reviewed Journal]The Author(s) 2016 ;COPYRIGHT 2016 Springer ;Springer-Verlag Berlin Heidelberg 2016 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-016-1719-x ;PMID: 27481395Full text available |
| 8 |
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Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in TunisiaArchives of disease in childhood, 2021-03, Vol.106 (3), p.311-311 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2019-318774 ;PMID: 32404439Full text available |
| 9 |
Material Type: Article
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Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesiaScientific reports, 2021-02, Vol.11 (1), p.3148-3148, Article 3148 [Peer Reviewed Journal]The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-82342-w ;PMID: 33542258Full text available |
| 10 |
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Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemiaMetabolic brain disease, 2021-08, Vol.36 (6), p.1213-1222 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021 ;2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021. ;ISSN: 0885-7490 ;EISSN: 1573-7365 ;DOI: 10.1007/s11011-021-00718-3 ;PMID: 33791923Full text available |
| 11 |
Material Type: Article
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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC geneStem cell research, 2019-08, Vol.39, p.101503-101503, Article 101503 [Peer Reviewed Journal]2019 ;Copyright © 2019. Published by Elsevier B.V. ;ISSN: 1873-5061 ;EISSN: 1876-7753 ;DOI: 10.1016/j.scr.2019.101503 ;PMID: 31349202Full text available |
| 12 |
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A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemiaMetabolic brain disease, 2019-02, Vol.34 (1), p.373-376 [Peer Reviewed Journal]Springer Science+Business Media, LLC, part of Springer Nature 2018 ;Metabolic Brain Disease is a copyright of Springer, (2018). All Rights Reserved. ;ISSN: 0885-7490 ;EISSN: 1573-7365 ;DOI: 10.1007/s11011-018-0317-0 ;PMID: 30350008Full text available |
| 13 |
Material Type: Article
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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemiaBMC medical genetics, 2018-01, Vol.19 (1), p.5-5, Article 5 [Peer Reviewed Journal]COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;The Author(s) 2018 ;ISSN: 1471-2350 ;EISSN: 1471-2350 ;DOI: 10.1186/s12881-017-0517-1 ;PMID: 29304759Full text available |
| 14 |
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Novel compound heterozygous LIAS mutations cause glycine encephalopathyJournal of human genetics, 2015-10, Vol.60 (10), p.631-635 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2015 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2015.72 ;PMID: 26108146Full text available |
| 15 |
Material Type: Article
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Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathyJournal of human genetics, 2014-11, Vol.59 (11), p.593-597 [Peer Reviewed Journal]The Japan Society of Human Genetics 2014. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2014.69 ;PMID: 25231368Full text available |
| 16 |
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Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylaseMetabolic brain disease, 2013-12, Vol.28 (4), p.717-720 [Peer Reviewed Journal]Springer Science+Business Media New York 2013 ;ISSN: 0885-7490 ;EISSN: 1573-7365 ;DOI: 10.1007/s11011-013-9415-1 ;PMID: 23712728Full text available |
| 17 |
Material Type: Article
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Nonketotic Hyperglycinemia of Infants in TaiwanPediatrics and neonatology, 2016-10, Vol.57 (5), p.420-426 [Peer Reviewed Journal]ISSN: 1875-9572 ;DOI: 10.1016/j.pedneo.2015.10.008Full text available |
| 18 |
Material Type: Article
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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaHuman mutation, 2006-04, Vol.27 (4), p.343-352 [Peer Reviewed Journal]2006 Wiley‐Liss, Inc. ;(c) 2006 Wiley-Liss, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.20293 ;PMID: 16450403Full text available |
| 19 |
Material Type: Article
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Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic levelJCI insight, 2018-11, Vol.3 (21) [Peer Reviewed Journal]Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 2379-3708 ;EISSN: 2379-3708 ;DOI: 10.1172/jci.insight.124642 ;PMID: 30385710Full text available |
| 20 |
Material Type: Article
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A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemiaNeurosciences (Riyadh, Saudi Arabia), 2017-04, Vol.22 (2), p.131-133 [Peer Reviewed Journal]COPYRIGHT 2017 Saudi Medical Journal ;Copyright: © Neurosciences 2017 ;ISSN: 1319-6138 ;DOI: 10.17712/nsj.2017.2.20160468 ;PMID: 28416785Full text available |
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