Zobrazeno 1 - 10 of 467 pro vyhledávání: '"Hyperglycinemia, Nonketotic"'
1
Akademický článek
The role of NMDA-receptor type glutamatergic antagonists dextromethorphan or ketamine in the treatment of nonketotic hyperglycinemia: A critical reassessment.
Autor: Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA. Electronic address: johan.vanhove@childrenscolorado.org.
Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Nov; Vol. 143 (3), pp. 108594. Date of Electronic Publication: 2024 Oct 12.
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2
Akademický článek
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Autor: Drackley A; Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Peter M; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Rathbun P; Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Ing A; Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Yap KL; Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63622. Date of Electronic Publication: 2024 Apr 04.
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3
Akademický článek
AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.
Autor: Leung KY; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK., Santos C; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK., De Castro SCP; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK., Diaz DG; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK., Copp AJ; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK., Waddington S; EGA Institute for Women's Health, University College London, London, UK., Greene NDE; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK. Electronic address: n.greene@ucl.ac.uk.
Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108496. Date of Electronic Publication: 2024 May 15.
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4
Akademický článek
The Role of Excitotoxicity, Oxidative Stress and Bioenergetics Disruption in the Neuropathology of Nonketotic Hyperglycinemia.
Autor: Leipnitz G; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil. guilhian@ufrgs.br.; Programa de Pós-Graduação em Ciências Biológicas: Fisiologia, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, CEP 90035-003, Brazil. guilhian@ufrgs.br., da Rosa JS; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil., Wajner M; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil.; Programa de Pós-Graduação em Ciências Biológicas: Fisiologia, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, CEP 90035-003, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90035-903, RS, Brazil.
Publikováno v: Neurotoxicity research [Neurotox Res] 2024 Jun 29; Vol. 42 (4), pp. 32. Date of Electronic Publication: 2024 Jun 29.
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5
Akademický článek
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.
Autor: Van Hirtum LDFM; Department of Child- and Adolescent Psychiatry, KU Leuven, Leuven, Belgium. Liesbet.vanhirtum@student.kuleuven.be.; Ankerpunt vzw, Leuven, Belgium. Liesbet.vanhirtum@student.kuleuven.be., Van Damme T; Department of Child Psychiatry, UPC Z.Org, Leuven, Belgium.; Department of Rehabilitation Sciences, KU Leuven, Leuven, Belgium., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA., Steyaert JG; Department of Child- and Adolescent Psychiatry, KU Leuven, Leuven, Belgium.; Leuven Autism Research Consortium, Leuven, Belgium.
Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 08; Vol. 19 (1), pp. 150. Date of Electronic Publication: 2024 Apr 08.
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6
Akademický článek
Glycine disrupts myelin, glutamatergic neurotransmission, and redox homeostasis in a neonatal model for non ketotic hyperglycinemia.
Autor: Parmeggiani B; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: belisasp@gmail.com., Signori MF; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Cecatto C; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Frusciante MR; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Marcuzzo MB; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Souza DG; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Brain Institute of Rio Grande do Sul, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil., Ribeiro RT; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Seminotti B; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Gomes de Souza DO; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Ribeiro CAJ; Natural and Humanities Sciences Center, Universidade Federal do ABC, São Bernardo do Campo, SP, 09606-070, Brazil., Wajner M; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Leipnitz G; Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: guilhian@ufrgs.br.
Publikováno v: Biochimie [Biochimie] 2024 Apr; Vol. 219, pp. 21-32. Date of Electronic Publication: 2023 Aug 02.
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7
Akademický článek
Non-Ketotic Hyperglycinemia: A Rare Presentation with Neurological and Skeletal Abnormalities.
Autor: Tariq A; Department of Paediatrics, Combined Military Hospital, Rawalpindi, Pakistan., Asdaque M; Department of Paediatrics, Combined Military Hospital, Rawalpindi, Pakistan., Khushdil A; Department of Neonatology, Pakistan Emirates Military Hospital, Rawalpindi, Pakistan., Qadir E; Department of Neonatology, Pakistan Emirates Military Hospital, Rawalpindi, Pakistan., Ahmed Z; Department of Neonatology, Pakistan Emirates Military Hospital, Rawalpindi, Pakistan.
Publikováno v: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2024 Mar; Vol. 34 (3), pp. 375-376.
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8
Akademický článek
Non-ketotic hyperglycinaemia masquerading as a hypotonic-hyporesponsive episode following vaccination in an infant.
Autor: Prasad A; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India drarunp@aiimspatna.org., Kumar P; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India., Marithammanahalli Faneesha G; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India., Kumar C; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India.
Publikováno v: BMJ case reports [BMJ Case Rep] 2024 May 23; Vol. 17 (5). Date of Electronic Publication: 2024 May 23.
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9
Akademický článek
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Autor: Arribas-Carreira L; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain., Castro M; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain., García F; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain., Navarrete R; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain., Bravo-Alonso I; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain., Zafra F; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, 28029 Madrid, Spain., Ugarte M; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, 28029 Madrid, Spain., Richard E; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, 28029 Madrid, Spain., Pérez B; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, 28029 Madrid, Spain., Rodríguez-Pombo P; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), 28049 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, 28029 Madrid, Spain.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 28; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 28.
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10
Akademický článek
Teaching NeuroImage: Glutaredoxin-5-Associated Variant Nonketotic Hyperglycinemia.
Autor: Roy Chowdhury S; From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India., Mittal R; From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India., Yadav R; From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India., Guglany V; From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India.
Publikováno v: Neurology [Neurology] 2024 Feb 13; Vol. 102 (3), pp. e208105. Date of Electronic Publication: 2024 Jan 04.
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