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71 results for Non-ketotic+hyperglycinemia

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Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
Author / Creator:Pai, Yun Jin ; Leung, Kit-Yi ; Savery, Dawn ; Hutchin, Tim ; Prunty, Helen ; Heales, Simon ; Brosnan, Margaret E. ; Brosnan, John T. ; Copp, Andrew J. ; Greene, Nicholas D.E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-03, Vol.6 (1), p.6388-6388, Article 6388
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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
Author / Creator:Van Hirtum, Liesbet D. F. M. ; Van Damme, Tine ; Van Hove, Johan L. K. ; Steyaert, Jean G.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.150-150, Article 150
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Non-Ketotic Hyperglycinemia: A Rare Presentation with Neurological and Skeletal Abnormalities
Author / Creator:Tariq, Andleeb ; Asdaque, Menahil ; Khushdil, Arshad ; Qadir, Ehsan ; Ahmed, Zeeshan
Publisher:Pakistan: College of Physicians and Surgeons Pakistan
Journal title:Journal of the College of Physicians and Surgeons--Pakistan, 2024-03, Vol.34 (3), p.375-376
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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
Author / Creator:Alfadhel, Majid ; Nashabat, Marwan ; Qahtani, Hanan Al ; Alfares, Ahmed ; Mutairi, Fuad Al ; Shaalan, Hesham Al ; Douglas, Ganka V. ; Wierenga, Klaas ; Juusola, Jane ; Alrifai, Muhammad Talal ; Arold, Stefan T. ; Alkuraya, Fowzan ; Ali, Qais Abu
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-11, Vol.135 (11), p.1263-1268
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Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report
Author / Creator:Mashima, Akifumi ; Furutani, Kenta ; Baba, Hiroshi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:JA clinical reports, 2024-12, Vol.10 (1), p.79-5, Article 79
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The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
Author / Creator:Gazeteci-Tekin, Hande ; Demir, Melis ; Aktan, Gül ; Tekgül, Hasan ; Gökben, Sarenur
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2019-07, Vol.61 (4), p.599-603
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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
Author / Creator:Lin, Yiming ; Zheng, Zhenzhu ; Sun, Wenjia ; Fu, Qingliu
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-01, Vol.19 (1), p.5-5, Article 5
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A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
Author / Creator:Kose, Engin ; Yis, Uluc ; Hiz, Semra ; Arslan, Nur
Publisher:Saudi Arabia: Saudi Medical Journal
Journal title:Neurosciences (Riyadh, Saudi Arabia), 2017-04, Vol.22 (2), p.131-133
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Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
Author / Creator:Korman, Stanley H ; Gutman, Alisa
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Developmental medicine and child neurology, 2002-10, Vol.44 (10), p.712-720
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Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia
Author / Creator:Taj, Farhana ; Sarin, Varun
Publisher:Medknow Publications Pvt Ltd
Journal title:Indian journal of paediatric dermatology, 2013-01, Vol.14 (1), p.30-32
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Gene therapy prevents disease and death from non-ketotic hyperglycinemia (Updated May 13, 2025)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2025-05, p.33
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Perioperative care of a child with non-ketotic hyperglycinemia Perioperative care of a child with non-ketotic hyperglycinemia
Author / Creator:Allee Joy ; Tobias Joseph
Publisher:Wolters Kluwer Medknow Publications
Journal title:Saudi journal of anaesthesia, 2010-01, Vol.4 (3), p.197-201
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Perioperative care of a child with non-ketotic hyperglycinemia
Author / Creator:Allee, Joy ; Tobias, JosephD
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Saudi journal of anaesthesia, 2010-09, Vol.4 (3), p.197-201
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Pre-therapy and post-therapy MRI and MRS findings in non-ketotic hyperglycinemia
Author / Creator:Yanamandala, Rama ; Pungavkar, Sona A. ; Lawande, Malini A. ; Patkar, Deepak P. ; Merchant, Rashid
Publisher:New York: Georg Thieme Verlag KG
Journal title:Journal of pediatric neurology, 2011-06, Vol.9 (2), p.271-275
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AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia (Updated May 14, 2024)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2024-06, p.1
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AAV-mediated gene therapy in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2024-01, p.17
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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
Author / Creator:Sankaran, Bindu Parayil ; Gupta, Sachin ; Tchan, Michel ; Devanapalli, Beena ; Rahman, Yusof ; Procopis, Peter ; Bhattacharya, Kaustuv
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.465-12, Article 465
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Bezafibrate Prevents Glycine-Induced Increase of Antioxidant Enzyme Activities in Rat Striatum
Author / Creator:Parmeggiani, Belisa ; Grings, Mateus ; da Rosa-Junior, Nevton Teixeira ; Britto, Renata ; Wajner, Moacir ; Leipnitz, Guilhian
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2019-01, Vol.56 (1), p.29-38
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ArticlesPeer ReviewedFull Text
Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)
Author / Creator:Korman, Stanley H ; Gutman, Alisa
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2002-10, Vol.44 (10), p.712-720
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Evidence that glycine induces lipid peroxidation and decreases glutathione concentrations in rat cerebellum
Author / Creator:Moura, Alana Pimentel ; Grings, Mateus ; Marcowich, Gustavo Flora ; Bumbel, Anna Paula ; Parmeggiani, Belisa ; de Moura Alvorcem, Leonardo ; Wajner, Moacir ; Leipnitz, Guilhian
Publisher:Boston: Springer US
Journal title:Molecular and cellular biochemistry, 2014-10, Vol.395 (1-2), p.125-134
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Showing 1 to 20 of 71 results

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Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype

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Non-Ketotic Hyperglycinemia: A Rare Presentation with Neurological and Skeletal Abnormalities

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

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Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report

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The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

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A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

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Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)

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Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia

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Gene therapy prevents disease and death from non-ketotic hyperglycinemia (Updated May 13, 2025)

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Perioperative care of a child with non-ketotic hyperglycinemia Perioperative care of a child with non-ketotic hyperglycinemia

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Perioperative care of a child with non-ketotic hyperglycinemia

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Pre-therapy and post-therapy MRI and MRS findings in non-ketotic hyperglycinemia

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AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia (Updated May 14, 2024)

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AAV-mediated gene therapy in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia

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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

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Bezafibrate Prevents Glycine-Induced Increase of Antioxidant Enzyme Activities in Rat Striatum

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Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

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Evidence that glycine induces lipid peroxidation and decreases glutathione concentrations in rat cerebellum

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