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- [41] Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier ParametersDIAGNOSTICS, 2021, 11 (02)论文数: 引用数: h-index:机构:Schanzer, Andrea论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaBasek, Pavel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Salzburg, Univ Clin Paediat & Adolescent Med, A-5020 Salzburg, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaBauer, Vera论文数: 0 引用数: 0 h-index: 0机构: Klinikum Wels Grieskirchen, Dept Pediat & Adolescent Med, A-4600 Wels, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaEber, Ernst论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Dept Pediat & Adolescent Med, Div Pediat Pulmonol & Allergol, A-8036 Graz, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaEllemunter, Helmut论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Cardiol Pulmonol Allergol & Cyst Fibrosis, Dept Child & Adolescent Hlth, A-6020 Innsbruck, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaKallinger, Margit论文数: 0 引用数: 0 h-index: 0机构: PEK Hosp Steyr Dept Pediat & Adolescent Med, A-4400 Steyr, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaRiedler, Josef论文数: 0 引用数: 0 h-index: 0机构: Kardinal Schwarzenberg Hosp Schwarzach, Dept Pediat & Adolescent Med, A-5620 Schwarzach, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaThir, Christina论文数: 0 引用数: 0 h-index: 0机构: Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, A-4040 Linz, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, AustriaWadlegger, Franz论文数: 0 引用数: 0 h-index: 0机构: Hop Klagenfurt Worthersee, Dept Pediat & Adolescent Med, Div Pediat Pulmonol & Allergol, A-9020 Klagenfurt Am Worthersee, Austria Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:Renner, Sabine论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, Austria Univ Hosp Frankfurt, ERN Lung Coordinating Ctr, Associated Natl Ctr European Reference Network Ra, D-60596 Frankfurt, Germany Med Univ Vienna, Comprehens Ctr Pediat, Dept Pediat & Adolescent Med, Clin Div Pediat Pulmonol Allergol & Endocrinol, A-1090 Vienna, Austria
- [42] Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newbornsORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Pajares, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Serv Bioquim & Genet Mol, Secc Errores Congenitos Metab IBC, C Mejia Lequerica S-N,Edificio Helios 3, Barcelona 08028, Spain Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain Hosp Clin Barcelona, Serv Bioquim & Genet Mol, Secc Errores Congenitos Metab IBC, C Mejia Lequerica S-N,Edificio Helios 3, Barcelona 08028, SpainArranz, Jose Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Unit Metab Dis, Barcelona, Spain Hosp Clin Barcelona, Serv Bioquim & Genet Mol, Secc Errores Congenitos Metab IBC, C Mejia Lequerica S-N,Edificio Helios 3, Barcelona 08028, SpainOrmazabal, Aida论文数: 0 引用数: 0 h-index: 0机构: Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain Hosp St Joan Deu, Inborn Errors Metab Unit, Barcelona, 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- [49] Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined ImmunodeficiencyFRONTIERS IN IMMUNOLOGY, 2020, 11Strand, Janne论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayGul, Kiran Aftab论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Paediat Res Inst, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayErichsen, Hans Christian论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Univ Oslo, Inst Clin Med, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayLundman, Emma论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBerge, Mona C.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayTromborg, Anette K.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwaySorgjerd, Linda K.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayYtre-Arne, Mari论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayHogner, Silje论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayHalsne, Ruth论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Forens Biol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayGaup, Hege Junita论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayOsnes, Liv T.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Immunol & Transfus Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayKro, Grete A. B.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Microbiol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwaySorte, Hanne S.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayMorkrid, Lars论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRowe, Alexander D.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway论文数: 引用数: h-index:机构:Jorgensen, Jens, V论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayAlme, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat Haematol, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBjorndalen, Trude E. H.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Obstet & Gynaecol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRonnestad, Arild E.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayLang, Astri M.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRootwelt, Terje论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Univ Oslo, Inst Clin Med, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBuechner, Jochen论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat Haematol, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayOverland, Torstein论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway论文数: 引用数: h-index:机构:Pettersen, Rolf D.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway
- [50] Second tier testing for newborn screening: The Michigan experienceMOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) : S56 - S56Fisher, Rachel论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USAQuinonez, Shane论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USASpender, Linda论文数: 0 引用数: 0 h-index: 0机构: Detroit Childrens Hosp, Detroit, MI USA Univ Michigan, Ann Arbor, MI 48109 USAStockton, David论文数: 0 引用数: 0 h-index: 0机构: Detroit Childrens Hosp, Detroit, MI USA Univ Michigan, Ann Arbor, MI 48109 USAEhrhardt, Joan论文数: 0 引用数: 0 h-index: 0机构: Michigan Dept Hlth & Human Serv, Lansing, MI USA Univ Michigan, Ann Arbor, MI 48109 USAKleyn, Mary论文数: 0 引用数: 0 h-index: 0机构: Michigan Dept Hlth & Human Serv, Lansing, MI USA Univ Michigan, Ann Arbor, MI 48109 USAAndruszewski, Karen论文数: 0 引用数: 0 h-index: 0机构: Michigan Dept Hlth & Human Serv, Lansing, MI USA Univ Michigan, Ann Arbor, MI 48109 USAAhmad, Ayesha论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USA