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- [1] Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC geneMOLECULAR GENETICS AND METABOLISM, 2011, 103 (02) : 193 - 196Brunel-Guitton, Catherine论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaCasey, Brett论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pathol, Mol Genet Lab, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaCoulter-Mackie, Marion论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaVallance, Hilary论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pathol, Biochem Genet Lab, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaHewes, Deborah论文数: 0 引用数: 0 h-index: 0机构: Abbotsford Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaStockler-Ipsiroglu, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, CanadaMercimek-Mahmutoglu, Saadet论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada
- [2] A Novel Missense Mutation in a Neonate With Nonketotic HyperglycinemiaPEDIATRIC NEUROLOGY, 2010, 43 (05) : 363 - 367Meyer, Sascha论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, Germany Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, GermanyAcquaviva, Cecile论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Ctr Biol & Pathol, Hereditary Metab Dis Serv, Bron, France INSERM, U820, F-69500 Bron, France Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, GermanyShamdeen, Mohammed Ghiath论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Saarland, Neuropcdiat Sect, Homburg, Germany Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, GermanyHaas, Dorothea论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Inborn Metab Dis, Heidelberg, Germany Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, GermanyVianey-Saban, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Ctr Biol & Pathol, Hereditary Metab Dis Serv, Bron, France INSERM, U820, F-69500 Bron, France Univ Hosp Saarland, Dept Pediat & Neonatal Intens Care Med, Homburg, Germany
- [3] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaHUMAN MUTATION, 2006, 27 (04) : 343 - 352Kure, S论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanKato, K论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanDinopoulos, A论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanGail, C论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapandeGrauw, TJ论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanChristodoulou, J论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanBzduch, V论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanKalmanchey, R论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanFekete, G论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanTrojovsky, A论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanPlecko, B论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanBreningstall, G论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanTohyama, J论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanAoki, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, JapanMatsubara, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, Japan
- [4] Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseHUMAN MUTATION, 2017, 38 (06) : 678 - 691Bravo-Alonso, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainNavarrete, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainArribas-Carreira, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainPerona, Almudena论文数: 0 引用数: 0 h-index: 0机构: SmartLigs SL, Parque Cient Madrid, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainAbia, David论文数: 0 引用数: 0 h-index: 0机构: CSIC UAM, Serv Bioinformat, Ctr Biol Mol Severo Ochoa, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain论文数: 引用数: h-index:机构:Garcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, IRP, HSJD, Barcelona, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainMorais, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil La Paz, Unidad Nutr Infantil & Enfermedades Metab, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainDomingo, Rosario论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Arrixaca, Serv Pediat, Murcia, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainAntonia Ramos, Maria论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Serv Genet, Hosp B, Navarra, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainSwanson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO USA Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainVan Hove, Johan L. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO USA Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainUgarte, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainPerez, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainPerez-Cerda, Celia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, SpainRodriguez-Pombo, Pilar论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain Univ Autonoma Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Diagnost Enfermedades Mol,CBM CSIC, Ctr Biol Mol Severo Ochoa,Dept Biol Mol,IDIPAZ, Madrid, Spain
- [5] Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationANNALS OF NEUROLOGY, 2006, 59 (02) : 411 - 415Korman, SH论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, IsraelWexler, ID论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, IsraelGutman, A论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, IsraelRolland, MO论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, IsraelKanno, J论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, IsraelKure, S论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Ctr Med, Dept Clin Biochem, Jerusalem, Israel
- [6] Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC GenePEDIATRIC NEUROLOGY, 2014, 50 (05) : 536 - 538Brenton, J. Nicholas论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, Charlottesville, VA 22908 USA Univ Virginia, Dept Neurol, Charlottesville, VA 22908 USARust, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, Charlottesville, VA 22908 USA Univ Virginia, Dept Neurol, Charlottesville, VA 22908 USA
- [7] Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemiaJOURNAL OF INHERITED METABOLIC DISEASE, 2024, 47 (05) : 971 - 990Swanson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAJiang, Hua论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USABusquet, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, NeuroTechnol Ctr, Sch Med, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Neurol, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USACarlsen, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, NeuroTechnol Ctr, Sch Med, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USABrindley, Connie论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, NeuroTechnol Ctr, Sch Med, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USABenke, Tim A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Pediat Neurol, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAVan Hove, Roxanne A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAFriederich, Marisa W.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAMacLean, Kenneth N.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAMesches, Michael H.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, NeuroTechnol Ctr, Sch Med, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Pediat Neurol, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USAVan Hove, Johan L. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA Univ Colorado, Educ 2 South,L28-4114,13121 East 17th Ave,Anschutz, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA
- [8] Nonketotic hyperglycinemia: Mutation spectra of the GLDC and AMT genes in Finnish and non-Finnish populations.AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A425 - A425Kure, S论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanTakayanagi, M论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanKurihara, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanLeisti, J论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanZalai, D论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanChuck, G论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanTada, K论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanMatsubara, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, JapanNarisawa, K论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, Japan
- [9] 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, 39Arribas-Carreira, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainBravo-Alonso, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainLopez-Marquez, Aristides论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainAlonso-Barroso, Esmeralda论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainBriso-Montiano, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainArroyo, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro de Alcantara, Serv Neonatol, Caceres, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainUgarte, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainPerez, Bela论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainPerez-Cerda, Celia论文数: 0 引用数: 0 h-index: 0机构: Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainRodriguez-Pombo, Pilar论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, SpainRichard, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain Ctr Diagnost Enfermedades Mol CEDEM, Madrid, Spain ISCIII, Ctr Invest Biomad Red Enfermedades Raras CIBERER, Madrid, Spain ISCIII, Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain Univ Autonoma Madrid, CSIC, Ctr Biol Mol Sever Ochoa, Nicolas Cabrera 1, E-28049 Madrid, Spain
- [10] AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic HyperglycinemiaMOLECULAR GENETICS AND METABOLISM, 2024, 142 (03)Leung, Kit-Yi论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandSantos, Chloe论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandDe Castro, Sandra C. P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandDiaz, Diana Gold论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandCopp, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandWaddington, Simon论文数: 0 引用数: 0 h-index: 0机构: UCL, EGA Inst Womens Hlth, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, EnglandGreene, Nicholas D. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Dept, London, England