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- [1] Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of MetabolismJAMA NETWORK OPEN, 2021, 4 (07) : E2114155Liu, Ning论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAXiao, Jing论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAGijavanekar, Charul论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAPappan, Kirk L.论文数: 0 引用数: 0 h-index: 0机构: Metabolon Inc Durham, Durham, NC USA Owlstone Med Inc Res, Durham, NC USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAGlinton, Kevin E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAShayota, Brian J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Univ Utah, Now Div Med Genet, Dept Pediat, Salt Lake City, UT USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAKennedy, Adam D.论文数: 0 引用数: 0 h-index: 0机构: Metabolon Inc Durham, Durham, NC USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USASun, Qin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USAElsea, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,R717, Houston, TX 77030 USA
- [2] Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsJOURNAL OF INHERITED METABOLIC DISEASE, 2018, 41 (03) : 337 - 353Coene, Karlien L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsKluijtmans, Leo A. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlandsvan der Heeft, Ed论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsEngelke, Udo F. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlandsde Boer, Siebolt论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsHoegen, Brechtje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsKwast, Hanneke J. T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlandsvan de Vorst, Maartje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Donders Inst Neurosci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsHuigen, Marleen C. D. G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsKeularts, Irene M. L. W.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Lab Biochem Genet, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsSchreuder, Michiel F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat Nephrol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlandsvan Karnebeek, Clara D. M.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Emma Childrens Hosp, Dept Genet Metab Disorders, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsWortmann, Saskia B.论文数: 0 引用数: 0 h-index: 0机构: Salzburger Landesklin SALK, Dept Pediat, Salzburg, Austria PMU, Salzburg, Austria Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlandsde Vries, Maaike C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsJanssen, Mirian C. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Donders Inst Neurosci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsEngel, Jasper论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Inst Mol & Mat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, NetherlandsWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Lab Med Translat Metab Lab TML, Geert Groote Pl Zuid 10, NL-6525 GA Nijmegen, Netherlands
- [3] Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disordersJOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (04) : 682 - 695Hoegen, Brechtje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsHampstead, Juliet E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsEngelke, Udo F. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Lab Med, Translat Metab Lab TML, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsKulkarni, Purva论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Lab Med, Translat Metab Lab TML, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Lab Med, Translat Metab Lab TML, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Maastricht Univ, Med Ctr, GROW Sch Oncol & Dev, MHENS Sch Neurosci,Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsCoene, Karlien L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Lab Med, Translat Metab Lab TML, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands
- [4] Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data setJOURNAL OF INHERITED METABOLIC DISEASE, 2021, 44 (01) : 215 - 225Boesch, Florin论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Dept Psychosomat & Psychiat, Zurich, Switzerland Univ Zurich, Dept Psychol, Div Child & Adolescent Hlth Psychol, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandLandolt, Markus A.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Childrens Res Ctr, Dept Psychosomat & Psychiat, Zurich, Switzerland Univ Zurich, Dept Psychol, Div Child & Adolescent Hlth Psychol, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandBaumgartner, Matthias R.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandZeltner, Nina论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Dept Psychosomat & Psychiat, Zurich, Switzerland Univ Zurich, Dept Psychol, Div Child & Adolescent Hlth Psychol, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandKoelker, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Neurol & Metab Med, Heidelberg, Germany Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandGleich, Florian论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Neurol & Metab Med, Heidelberg, Germany Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandBurlina, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padua, Dept Pediat, Div Inborn Metab Dis, Padua, Italy Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandCazzorla, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padua, Dept Pediat, Div Inborn Metab Dis, Padua, Italy Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandPackman, Wendy论文数: 0 引用数: 0 h-index: 0机构: Palo Alto Univ, Pacific Grad Sch Psychol, Palo Alto, CA USA Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandV. D. Schwartz, Ida论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandVieira Neto, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Inst Childcare & Pediat Martagao Gesteira, Rio De Janeiro, Brazil Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandRibeiro, Marcia G.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Inst Childcare & Pediat Martagao Gesteira, Rio De Janeiro, Brazil Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandMartinelli, Diego论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Pediat, Div Metab, Rome, Italy Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandOlivieri, Giorgia论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Pediat, Div Metab, Rome, Italy Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, SwitzerlandHuemer, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, Switzerland Dept Paediat, Bregenz, Austria Univ Childrens Hosp, Childrens Res Ctr, Div Metab, Zurich, Switzerland
- [5] Identification of adult patients with significantly elevated homocysteine due to inborn errors of metabolism, using key existing clinical data pointsMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S3 - S5Garcia, Aixa Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Atlanta, GA 30322 USALi, Hong论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet & Pediat, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA