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- [21] Newborn screening for spinal muscular atrophy in the world todayNEUROMUSCULAR DISORDERS, 2021, 31 : S126 - S127Dangouloff, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Liege, Liege, Belgium Univ Liege, Liege, BelgiumVrscaj, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Ctr, Ljubljana, Slovenia Univ Liege, Liege, Belgium论文数: 引用数: h-index:机构:Osredkar, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Ljubljana, Slovenia Univ Liege, Liege, Belgium
- [22] Spinal muscular atrophy. Time for newborn screening?NERVENARZT, 2017, 88 (12): : 1358 - 1366Vill, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyBlaschek, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanySchara, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Abt Neuromuskulare Erkrankungen Kindesalter, Essen, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyKoelbel, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Abt Neuromuskulare Erkrankungen Kindesalter, Essen, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyHohenfellner, K.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Traunstein, Klin Kinder & Jugendmed, Abt Kindernephrol, Traunstein, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyHarms, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Munster, Klin Kinder & Jugendmed, Munster, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyOlgemoeller, B.论文数: 0 引用数: 0 h-index: 0机构: Neugeborenen Screening, Lab Becker Olgemoller & Kollegen, Munich, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyWalter, Maggie C.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Univ Munchen, Neurol Klin & Poliklin, Friedrich Bau Inst, Munich, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, GermanyMueller-Felber, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, Germany Univ Munich, Dr von Haunersches Kinderspital,LMU Zentrum iSPZ, Abteilung Neuropadiatrie Entwicklungsneurol & Soz, Zentrum Neuromuskulare Erkrankungen & Neuroimmuno, Lindwurmstr 4, D-80337 Munich, Germany
- [23] Clinical Effectiveness of Newborn Screening for Spinal Muscular AtrophyJAMA PEDIATRICS, 2024, 178 (06) : 540 - 547Schwartz, Oliver论文数: 0 引用数: 0 h-index: 0机构: Munster Univ Hosp, Dept Pediat Neurol, Munster, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyVill, Katharina论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Hosp, Ludwig Maximilians Univ, Dept Pediat Neurol & Dev Med, Munich, Germany Ludwig Maximilians Univ Munchen, Ludwig Maximilians Univ Hosp, Dr von Hauner Childrens Hosp, Ctr Children Med Complex, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyPfaffenlehner, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Inst Med Biometry & Stat, Fac Med, Freiburg, Germany Univ Freiburg, Med Ctr, Freiburg, Germany Univ Freiburg, Freiburg Ctr Data Anal & Modelling, Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyBehrens, Max论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Inst Med Biometry & Stat, Fac Med, Freiburg, Germany Univ Freiburg, Med Ctr, Freiburg, Germany Univ Freiburg, Freiburg Ctr Data Anal & Modelling, Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyWeiss, Claudia论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ Med Berlin, Ctr Chron Sick Children, Berlin, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyJohannsen, Jessika论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyFriese, Johannes论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Fac Med, Dept Neuropediat, Bonn, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyHahn, Andreas论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Dept Child Neurol, Giessen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyZiegler, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Dept Neuropediat & Metab Med, Heidelberg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyIllsinger, Sabine论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Clin Pediat Kidney Liver & Metab Dis, Hannover, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanySmitka, Martin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Med Fak Carl Gustav Carus, Abt Neuropaediat, Dresden, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, Germanyvon Moers, Arpad论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat & Neuropediat, Deutsch Rotes Kreuz Kliniken Berlin, Berlin, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyKoelbel, Heike论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Neuromuscular Ctr Cdhildren & Adolescents, Essen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanySchreiber, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Dept Pediat Neurol, Kassel, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyKaiser, Nadja论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Paediat Neurol, Tubingen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyWilichowski, Ekkehard论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Georg August Univ Gottingen, Dept Paediat & Pediat Neurol, Gottingen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyFlotats-Bastardas, Marina论文数: 0 引用数: 0 h-index: 0机构: Saarland Univ Hosp, Dept Pediat Neurol, Homburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyHusain, Ralf A.论文数: 0 引用数: 0 h-index: 0机构: Jena Univ Hosp, Dept Neuropediat, Jena, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyBaumann, Matthias论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Div Pediat Neurol, Innsbruck, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyKoehler, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, St Josef Hosp, Abt Neuropadiatrie & Sozialpadiatrie, Univ Klin Kinder & Jugendmed, Bochum, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyTrollmann, Regina论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Dept Pediat, Div Pediat Neurol, Erlangen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanySchwerin-Nagel, Annette论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Dept Pediat & Adolescent Med, Div Gen Pediat, Graz, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyEisenkoelbl, Astrid论文数: 0 引用数: 0 h-index: 0机构: Johannes Kepler Univ Linz, Kepler Univ Hosp, Dept Paediat & Adolescent Med, Linz, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanySchimmel, Mareike论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Augsburg, Pediat Neurol Pediat & Adolescent Med, Augsburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyFleger, Martin论文数: 0 引用数: 0 h-index: 0机构: State Hosp Bregenz, Dept Pediat, Bregenz, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyKauffmann, Birgit论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp Bremen, Eltern Kind Zent Prof Hess, Dept Pediat Neurol, Bremen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyWiegand, Gert论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, Asklepios Clin Hamburg Nord Heidberg, Neuropediat Sect, Hamburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyBaumgartner, Manuela论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat & Adolescent Med, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyRauscher, Christian论文数: 0 引用数: 0 h-index: 0机构: Private Med Univ Salzburg, Dept Pediat & Adolescent Med, Salzburg, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyCirak, Sebahattin论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ Med Ctr, Med Ctr, Dept Pediat & Adolescent Med, Div Pediat Neurol, Ulm, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyGlaeser, Dieter论文数: 0 引用数: 0 h-index: 0机构: MVZ Genetikum GmbH, Ctr Human Genet, Neu Ulm, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyBernert, Guenther论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, Clin Favoriten, Vienna, Austria Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyHagenacker, Tim论文数: 0 引用数: 0 h-index: 0机构: Univ Med Essen, Dept Neurol, Essen, Germany Univ Med Essen, Ctr Translat Neuro & Behav Sci, Essen, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyGoldbach, Susanne论文数: 0 引用数: 0 h-index: 0机构: Deutsch Gesell Muskelkranke, Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyProbst-Schendzielorz, Kristina论文数: 0 引用数: 0 h-index: 0机构: Deutsch Gesell Muskelkranke, Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa Hosp, Dept Med,Res Inst,Div Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Mathildenstr 1, D-79106 Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyMueller-Felber, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Hosp, Ludwig Maximilians Univ, Dept Pediat Neurol & Dev Med, Munich, Germany Ludwig Maximilians Univ Munchen, Ludwig Maximilians Univ Hosp, Dr von Hauner Childrens Hosp, Ctr Children Med Complex, Munich, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, Germany论文数: 引用数: h-index:机构:Walter, Maggie C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Ludwig Maximilians Univ, Friedrich Baur Inst, Dept Neurol, Munich, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyKirschner, Janbernd论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Mathildenstr 1, D-79106 Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, GermanyPechmann, Astrid论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Mathildenstr 1, D-79106 Freiburg, Germany Munster Univ Hosp, Dept Pediat Neurol, Munster, Germany
- [24] Universal newborn screening for spinal muscular atrophy in UkraineLANCET, 2023, 402 (10398): : 288 - 289Olkhovych, Nataliia论文数: 0 引用数: 0 h-index: 0机构: Natl Specialized Childrens Hosp Okhmatdyt, Kiev, Ukraine Natl Specialized Childrens Hosp Okhmatdyt, Kiev, UkraineGorovenko, Nataliia论文数: 0 引用数: 0 h-index: 0机构: Natl Univ PL Shupik, Dept Med & Lab Genet, Kiev, Ukraine Natl Specialized Childrens Hosp Okhmatdyt, Kiev, UkraineServais, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MDUK Oxford Neuromuscular Ctr, Oxford OX3 9DU, England Univ Oxford, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Hosp Liege, Neuromuscular Reference Ctr, Dept Paediat, Liege, Belgium Univ La Citadelle, Liege, Belgium Natl Specialized Childrens Hosp Okhmatdyt, Kiev, Ukraine
- [25] The respiratory impact of novel therapies for spinal muscular atrophyPEDIATRIC PULMONOLOGY, 2021, 56 (04) : 721 - 728Paul, Grace R.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat Pulm Med, Columbus, OH USA Ohio State Univ, Columbus, OH 43210 USA Nationwide Childrens Hosp, Dept Pediat Pulm Med, Columbus, OH USAGushue, Courtney论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Pediat Pulm Med, Portland, OR USA Nationwide Childrens Hosp, Dept Pediat Pulm Med, Columbus, OH USAKotha, Kavitha论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat Pulm Med, Columbus, OH USA Ohio State Univ, Columbus, OH 43210 USA Nationwide Childrens Hosp, Dept Pediat Pulm Med, Columbus, OH USA论文数: 引用数: h-index:机构:
- [26] Newborn Screening for 6 Lysosomal Storage Disorders in ChinaJAMA NETWORK OPEN, 2024, 7 (05) : E2410754Chang, Siyu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaZhan, Xia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaLiu, Yuchao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaSong, Huanlei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaGong, Zizhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaHan, Lianshu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaMaegawa, Gustavo H. B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Dept Pediat, New York, NY USA Columbia Univ, Med Ctr, New York, NY USA Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaGu, Xuefan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaZhang, Huiwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet,Shanghai Inst Pedia, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China
- [27] Simplified Newborn Screening Protocol for Lysosomal Storage DisordersCLINICAL CHEMISTRY, 2011, 57 (09) : 1286 - 1294Metz, Thomas F.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaMechtler, Thomas P.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaOrsini, Joseph J.论文数: 0 引用数: 0 h-index: 0机构: New York State Dept Hlth, Wadsworth Ctr, Biggs Lab, Albany, NY USA Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaMartin, Monica论文数: 0 引用数: 0 h-index: 0机构: New York State Dept Hlth, Wadsworth Ctr, Biggs Lab, Albany, NY USA Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaShushan, Bori论文数: 0 引用数: 0 h-index: 0机构: Clin Mass Spec Consultants, Toronto, ON, Canada Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaHerman, Joseph L.论文数: 0 引用数: 0 h-index: 0机构: Thermo Fisher Sci, Franklin, MA USA Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaRatschmann, Rene论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaItem, Chike B.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaStreubel, Berthold论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pathol, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaHerkner, Kurt R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, AustriaKasper, David C.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria
- [28] Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?CLINICAL CHEMISTRY, 2016, 62 (11) : 1430 - 1438Peake, Roy W. A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USAMarsden, Deborah L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Metab, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USABodamer, Olaf A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Genet & Genom, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USAGelb, Michael H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Chem, Chem, Seattle, WA 98195 USA Univ Washington, Dept Chem, Biochem, Seattle, WA 98195 USA Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USAMillington, David S.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Hlth Syst, Pediat, Durham, NC USA Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USAWijburg, Frits论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Div Metab Dis, Acad Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands Harvard Med Sch, Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA
- [29] Newborn screening for spinal muscular atrophy: Anticipating an imminent needSEMINARS IN PERINATOLOGY, 2015, 39 (03) : 217 - 229Phan, Han C.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Pediat, Atlanta, GA 30322 USA Emory Univ, Dept Pediat, Atlanta, GA 30322 USATaylor, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Pediat, Atlanta, GA 30322 USAHannon, Harry论文数: 0 引用数: 0 h-index: 0机构: Clin & Lab Stand Inst CLSI, Newborn Screening Consensus Comm, Wayne, PA USA Emory Univ, Dept Pediat, Atlanta, GA 30322 USAHowell, Rodney论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL 33136 USA Emory Univ, Dept Pediat, Atlanta, GA 30322 USA
- [30] Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular AtrophyDEGENERATIVE NEUROLOGICAL AND NEUROMUSCULAR DISEASE, 2020, 10 : 39 - 47Jedrzejowska, Maria论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Mossakowski Med Res Inst, Rare Dis Res Platform, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Inst, Rare Dis Res Platform, Warsaw, Poland