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- [11] Mucopolysaccharidosis Type IDIAGNOSTICS, 2020, 10 (03)Kubaski, Francyne论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil HCPA, Med Genet Serv, BR-90035903 Porto Alegre, RS, Brazil INAGEMP, BR-90035903 Porto Alegre, RS, Brazil HCPA, Expt Res Ctr, Biodiscovery Res Grp, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilPoswar, Fabiano de Oliveira论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil HCPA, Med Genet Serv, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilMichelin-Tirelli, Kristiane论文数: 0 引用数: 0 h-index: 0机构: HCPA, Med Genet Serv, BR-90035903 Porto Alegre, RS, Brazil HCPA, Expt Res Ctr, Biodiscovery Res Grp, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilMatte, Ursula da Silveira论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil INAGEMP, BR-90035903 Porto Alegre, RS, Brazil HCPA, Expt Res Ctr, Biodiscovery Res Grp, BR-90035903 Porto Alegre, RS, Brazil HCPA, Gene Therapy Ctr, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Genet, BR-91501970 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilHorovitz, Dafne D.论文数: 0 引用数: 0 h-index: 0机构: Fundacao Oswaldo Cruz, Natl Inst Women Children & Adolescent Hlth, Med Genet Dept, BR-21040900 Rio De Janeiro, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilBarth, Anneliese Lopes论文数: 0 引用数: 0 h-index: 0机构: Fundacao Oswaldo Cruz, Natl Inst Women Children & Adolescent Hlth, Med Genet Dept, BR-21040900 Rio De Janeiro, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilBaldo, Guilherme论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil INAGEMP, BR-90035903 Porto Alegre, RS, Brazil HCPA, Expt Res Ctr, Biodiscovery Res Grp, BR-90035903 Porto Alegre, RS, Brazil HCPA, Gene Therapy Ctr, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Physiol, BR-90050170 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilVairo, Filippo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, BrazilGiugliani, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil HCPA, Med Genet Serv, BR-90035903 Porto Alegre, RS, Brazil INAGEMP, BR-90035903 Porto Alegre, RS, Brazil HCPA, Expt Res Ctr, Biodiscovery Res Grp, BR-90035903 Porto Alegre, RS, Brazil HCPA, Gene Therapy Ctr, BR-90035903 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Genet, BR-91501970 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Med, Clin Sci, BR-90035003 Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil
- [12] Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening programPEDIATRICS, 2008, 122 (01) : E39 - E45Chien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanChiang, Shu-Chuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanZhang, Xiaokui Kate论文数: 0 引用数: 0 h-index: 0机构: Genzyme Corp, Cambridge, MA USA Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanKeutzer, Joan论文数: 0 引用数: 0 h-index: 0机构: Genzyme Corp, Cambridge, MA USA Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanHuang, Ai-Chu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanChen, Chun-An论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanWu, Mei-Hwan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanHuang, Pei-Hsin论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pathol, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanTsai, Fu-Jen论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Dept Pediat, Taichung, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanChen, Yuan-Tsong论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, TaiwanHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan China Med Univ, Dept Pediat, Taichung, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan
- [13] Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type IAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (04)O'Grady, Lauren论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAZoltick, Emilie S.论文数: 0 引用数: 0 h-index: 0机构: Harvard Pilgrim Hlth Care Inst, Dept Populat Med, Boston, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAZouk, Hana论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Boston, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAHe, Wei论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Gen Internal Med, Boston, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAPerez, Emma论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Mass Gen Brigham Personalized Med, Boston, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAClarke, Lorne论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, BC Childrens Hosp Res Inst, Vancouver, BC, Canada Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAGold, Jessica论文数: 0 引用数: 0 h-index: 0机构: Northwell Hlth, Dept Pediat, Div Genet, New Hyde Pk, NY USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAStrong, Alanna论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USASahai, Inderneel论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA New England Newborn Screening Program, Worcester, MA 01605 USA UMass Chen Med Sch, Worcester, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAYeo, Julie论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAGreen, Robert C.论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham, Boston, MA USA Broad Inst, Cambridge, MA USA Ariadne Labs, Boston, MA USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAKaraa, Amel论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USAGold, Nina B.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA 02114 USA
- [14] Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programMOLECULAR GENETICS AND METABOLISM, 2012, 106 (03) : 281 - 286Chiang, Shu-Chuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, TaiwanHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ, Sch Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ, Sch Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, TaiwanHsu, Li-Wen论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ, Sch Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10016, Taiwan
- [15] Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VIJOURNAL OF PEDIATRICS, 2019, 205 : 176 - 182Chan, Min-Ju论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanLiao, Hsuan-Chieh论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanGelb, Michael H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Chem, Seattle, WA 98195 USA Univ Washington, Dept Biochem, Seattle, WA 98195 USA Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanChuang, Chih-Kuang论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Med Res, Div Genet & Metab, Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanLiu, Mei-Ying论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanChen, Hsiao-Jan论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanKao, Shu-Min论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanLin, Hsiang-Yu论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Med Res, Div Genet & Metab, Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Mackay Jr Coll Med, Nursing & Management, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanHuang, You-Hsin论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanKumar, Arun Babu论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Chem, Seattle, WA 98195 USA Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanChennamaneni, Naveen Kumar论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Chem, Seattle, WA 98195 USA Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanPendem, Nagendar论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Chem, Seattle, WA 98195 USA Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanLin, Shuan-Pei论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Med Res, Div Genet & Metab, Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, TaiwanChiang, Chuan-Chi论文数: 0 引用数: 0 h-index: 0机构: Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan
- [16] Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint PetersburgINTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2024, 10 (01)Kiselev, Anton论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaMaretina, Marianna论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaShtykalova, Sofia论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaAl-Hilal, Haya论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaMaslyanyuk, Natalia论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaPlokhih, Mariya论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaSerebryakova, Elena论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia St Petersburg State Med Diagnost Ctr, Genet Med 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Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, RussiaGlotov, Andrey论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Dept Genom Med, Mendeleevskaya Line 3, St Petersburg 199034, Russia
- [17] REVIEW Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United StatesGENETICS IN MEDICINE, 2023, 25 (02)Ream, Margie A.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USA Nationwide Childrens Hosp, Div Child Neurol, 700 Childrens Dr, Columbus, OH 43205 USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USALam, Wendy K. K.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Clin & Translat Sci Inst, Sch Med, Durham, NC USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAGrosse, Scott D.论文数: 0 引用数: 0 h-index: 0机构: CDCP, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAOjodu, Jelili论文数: 0 引用数: 0 h-index: 0机构: Assoc Publ Hlth Labs, Silver Spring, MD USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAJones, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Assoc Publ Hlth Labs, Silver Spring, MD USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAProsser, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Susan B Meister Child Hlth Evaluat & Res Ctr, Dept Pediat, Michigan Med, Ann Arbor, MI USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USARose, Angela M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Susan B Meister Child Hlth Evaluat & Res Ctr, Dept Pediat, Michigan Med, Ann Arbor, MI USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAComeau, Anne Marie论文数: 0 引用数: 0 h-index: 0机构: UMass Chan Sch Med, Dept Pediat, New England Newborn Screening Program, Worcester, MA, Brazil Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USATanksley, Susan论文数: 0 引用数: 0 h-index: 0机构: Texas Dept State Hlth Serv, Lab Serv Sect, Austin, TX USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAPowell, Cynthia M.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Sch Med, Dept Pediat, Div Genet & Metab, Chapel Hill, NC USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USAKemper, Alex R.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat, Columbus, OH USA Nationwide Childrens Hosp, Div Child Neurol, Columbus, OH USA
- [18] Newborn Screening Pilot Program of Hemoglobinopathies: first results in UruguayACTA BIOQUIMICA CLINICA LATINOAMERICANA, 2017, 51 (02): : 243 - 248Audicio, Paola论文数: 0 引用数: 0 h-index: 0机构: Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, Uruguay Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, UruguaySegobia, Betsey论文数: 0 引用数: 0 h-index: 0机构: Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, Uruguay Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, UruguayQueijo, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, Uruguay Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, UruguayQueiruga, Graciela论文数: 0 引用数: 0 h-index: 0机构: Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, Uruguay Inst Seguridad Social BPS, Lab Pesquisa Neonatal, Tristan Narvaja 1716 Piso 4, Montevideo, Uruguay
- [19] International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeACTA PAEDIATRICA, 2018, 107 (12) : 2059 - 2065Parini, Rossella论文数: 0 引用数: 0 h-index: 0机构: San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, Italy IRCCS San Raffaele Hosp, TIGET Inst, Milan, Italy San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyBroomfield, Alexander论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyCleary, Maureen A.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp NHS Trust, Metab Unit, London, England San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyDe Meirleir, Linda论文数: 0 引用数: 0 h-index: 0机构: UZ Brussel, Dept Pediat Neurol & Metab Dis, Brussels, Belgium San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyDi Rocco, Maja论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, Dept Pediat, Unit Rare Dis, Genoa, Italy San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyFathalla, Waseem M.论文数: 0 引用数: 0 h-index: 0机构: Mafraq Hosp, Dept Paediat, Div Paediat Neurol, Abu Dhabi, U Arab Emirates San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyGuffon, Nathalie论文数: 0 引用数: 0 h-index: 0机构: HFME Hosp, Reference Ctr Metab Dis, Bron, France San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyLampe, Christina论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Univ Med Ctr, Childrens Hosp, Mainz, Germany San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyLund, Allan M.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, Copenhagen, Denmark San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyScarpa, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Pediat, Padua, Italy San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyTylki-Szymanska, Anna论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Paediat Nutr & Metab Dis, Warsaw, Poland San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, ItalyZeman, Jiri论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic Gen Fac Hosp, Prague, Czech Republic San Gerardo Univ Hosp, MBBM Fdn, Paediat Clin, Rare Metab Dis Unit, Monza, Italy
- [20] Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future DirectionINTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)Hall, Patricia L.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 USASanchez, Rossana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 USAHagar, Arthur F.论文数: 0 引用数: 0 h-index: 0机构: Georgia Dept Publ Hlth, Atlanta, GA 30303 USA Emory Univ, Dept Human Genet, Atlanta, GA 30322 USAJerris, S. Caleb论文数: 0 引用数: 0 h-index: 0机构: EGL Genet, Tucker, GA 30084 USA Emory Univ, Dept Human Genet, Atlanta, GA 30322 USAWittenauer, Angela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 USAWilcox, William R.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 USA