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- [21] Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year ExperienceINTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2021, 7 (03)Alsharhan, Hind论文数: 0 引用数: 0 h-index: 0机构: Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, Kuwait Minist Hlth, Dept Pediat, Farwaniya Hosp, Sabah Al Nasser 92426, Kuwait Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAhmed, Amir A.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Newborn Screening Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Minist Hlth, Next Generat Sequencing Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAli, Naser M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Next Generat Sequencing Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAlahmad, Ahmad论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Mol Genet Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAlbash, Buthaina论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitElshafie, Reem M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Minist Hlth, Next Generat Sequencing Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAlkanderi, Sumaya论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Minist Hlth, Next Generat Sequencing Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitElkazzaz, Usama M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Farwaniya Hosp, Newborn Screening Off, Sabah Al Nasser 92426, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitCyril, Parakkal Xavier论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Adan Hosp, Newborn Screening Off, Hadiya 52700, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAbdelrahman, Rehab M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Newborn Screening Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitElmonairy, Alaa A.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitIbrahim, Samia M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Al Sabah Matern Hosp, Newborn Screening Off, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitElfeky, Yasser M. E.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Jahra Hosp, Newborn Screening Off, Jahra 00020, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitSadik, Doaa, I论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAl-Enezi, Sara D.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Mol Genet Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitSalloum, Ayman M.论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Biochem Lab, Al Sabah Hosp, Shuwaikh 70051, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitGirish, Yadav论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Clin Biochem Lab, Ibn Sina Hosp, POB 25427, Safat 13115, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAl-Ali, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Next Generat Sequencing Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitRamadan, Dina G.论文数: 0 引用数: 0 h-index: 0机构: Al Sabah Hosp, Dept Pediat, Minist Hlth, Shuweikh 70051, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAlsafi, Rasha论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Dept Pediat, Adan Hosp, Hadiya 52700, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitAl-Rushood, May论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Newborn Screening Lab, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, KuwaitBastaki, Laila论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Kuwait Med Genet Ctr, Sulibikhat 80901, Kuwait Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, Kuwait
- [22] Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, JapanGENES, 2023, 14 (12)Sonehara, Shoko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanBo, Ryosuke论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanNambu, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanIketani, Kiiko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan Hyogo Prefectural Kobe Childrens Hosp, 1-6-7 Minatozimaminami Cho,Chuo Ku, Kobe 6500047, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanLee, Tomoko论文数: 0 引用数: 0 h-index: 0机构: Hyogo Med Univ, Dept Pediat, 1-1 Mukogawa Cho, Nishinomiya 6638501, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanShimomura, Hideki论文数: 0 引用数: 0 h-index: 0机构: Hyogo Med Univ, Dept Pediat, 1-1 Mukogawa Cho, Nishinomiya 6638501, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanUeda, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Toyooka Publ Hosp, Dept Pediat, 1094 Tobera, Toyooka 6688501, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanTakeshima, Yasuhiro论文数: 0 引用数: 0 h-index: 0机构: Hyogo Med Univ, Dept Pediat, 1-1 Mukogawa Cho, Nishinomiya 6638501, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanIijima, Kazumoto论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, 1-6-7 Minatozimaminami Cho,Chuo Ku, Kobe 6500047, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan论文数: 引用数: h-index:机构:Nishio, Hisahide论文数: 0 引用数: 0 h-index: 0机构: Kobe Gakuin Univ, Fac Rehabil, 518 Arise,Ikawadani Cho,Nishi Ku, Kobe 6512180, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, JapanAwano, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Res Initiat Ctr, Org Res Initiat & Promot, 86 Nishi Cho, Yonago 6838503, Japan Kobe Univ, Grad Sch Med, Dept Pediat, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe 6500017, Japan
- [23] Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypesMOLECULAR GENETICS AND METABOLISM, 2017, 120 (03) : 223 - 228Welling, Lindsey论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsBoelen, Anita论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Lab Endocrinol, Dept Clin Chem, Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsDerks, Terry G. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis, Groningen, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsSchielen, Peter C. J. I.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Publ Hlth & Environm RIVM, Ctr Infect Dis Res Diagnost & Screening IDS, Bilthoven, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, Netherlandsde Vries, Maaike论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr St Radboud Nijmegen, Dept Pediat, Nijmegen, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsWilliams, Monique论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Erasmus MC, Sophia Childrens Hosp, Dept Pediat, Rotterdam, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsWijburg, Frits A.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, NetherlandsBosch, Annet M.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Room H7-270,POB 22660, NL-1100 DD Amsterdam, Netherlands
- [24] Newborn Screening for Pompe Disease: Pennsylvania ExperienceINTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (04)Ficicioglu, Can论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAAhrens-Nicklas, Rebecca C.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USABarch, Joshua论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Div Med Genet, Dept Pediat, Pittsburgh, PA 15224 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USACuddapah, Sanmati R.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USADiBoscio, Brenda S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USADiPerna, James C.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer, Mass Spect Unit, Pittsburgh, PA 15275 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAGordon, Patricia L.论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Coll Med, Penn State Heath Childrens Hosp, Div Human Genet, Hershey, PA 17033 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAHenderson, Nadene论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAMenello, Caitlin论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USALuongo, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAOrtiz, Damara论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Div Med Genet, Dept Pediat, Pittsburgh, PA 15224 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USAXiao, Rui论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Biostat, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Biostat Epidemiol & Informat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Div Human Genet Metabolism, Philadelphia, PA 19104 USA
- [25] Newborn screening for SCID: three years of experienceYEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I, 2011, 1238 : 99 - 105Chase, Nicole M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Div Allergy Clin Immunol, Dept Pediat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Div Allergy Clin Immunol, Dept Pediat, Milwaukee, WI 53226 USAVerbsky, James W.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Div Pediat Rheumatol, Dept Pediat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Div Allergy Clin Immunol, Dept Pediat, Milwaukee, WI 53226 USARoutes, John M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Div Allergy Clin Immunol, Dept Pediat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Div Allergy Clin Immunol, Dept Pediat, Milwaukee, WI 53226 USA
- [26] Newborn Screening for SCID: Experience in Spain (Catalonia)INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2021, 7 (03)Argudo-Ramirez, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainMartin-Nalda, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainGonzalez De Aledo-Castillo, Jose Manuel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainLopez-Galera, Rosa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain August Pi & Sunyer IDIBAPS, Biomed Res Inst, Barcelona 08036, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainLuis Marin-Soria, Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainPajares-Garcia, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Spain Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainMartinez-Gallo, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Immunol Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainGarcia-Prat, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainColobran, Roger论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Immunol Div, Barcelona 08028, Spain Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Dept Clin & Mol Genet, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainRiviere, Jacques G.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainQuintero, Yania论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainCollado, Tatiana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainRibes, Antonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain August Pi & Sunyer IDIBAPS, Biomed Res Inst, Barcelona 08036, Spain Spain Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainGarcia-Villoria, Judit论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain August Pi & Sunyer IDIBAPS, Biomed Res Inst, Barcelona 08036, Spain Spain Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, SpainSoler-Palacin, Pere论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Universitary Vall dHebron, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona 08028, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, Inborn Errors Metab Div, Barcelona 08028, Spain
- [27] Newborn screening for homocystinuria: Irish and world experienceEuropean Journal of Pediatrics, 1998, 157 : S84 - S87E. R. Naughten论文数: 0 引用数: 0 h-index: 0机构: The Metabolic Unit,S. Yap论文数: 0 引用数: 0 h-index: 0机构: The Metabolic Unit,P. D. Mayne论文数: 0 引用数: 0 h-index: 0机构: The Metabolic Unit,
- [28] Newborn screening for homocystinuria: Irish and world experienceEUROPEAN JOURNAL OF PEDIATRICS, 1998, 157 (Suppl 2) : S84 - S87Naughten, ER论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Metab Unit, Dublin 1, IrelandYap, S论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Metab Unit, Dublin 1, IrelandMayne, PD论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Metab Unit, Dublin 1, Ireland
- [29] Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screeningCLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2021, 59 (01) : 209 - 216Allaf, Bichr论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FrancePondarre, Corinne论文数: 0 引用数: 0 h-index: 0机构: Hosp Creteil, Reference Ctr Sickle Cell Dis, Dept Gen Pediat, Creteil, France Paris XII Univ, INSERM Unite 955, Creteil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceAllali, Slimane论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Necker Hosp Sick Children, Reference Ctr Sickle Cell Dis, Dept Gen Pediat & Pediat Infect Dis,AP HP, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Lab Cellular & Mol Mech Hematol Disorders & Thera, Inserm U1163, Imagine Inst, Paris, France Lab Excellence GR Ex, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceDe Montalembert, Mariane论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Necker Hosp Sick Children, Reference Ctr Sickle Cell Dis, Dept Gen Pediat & Pediat Infect Dis,AP HP, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Lab Cellular & Mol Mech Hematol Disorders & Thera, Inserm U1163, Imagine Inst, Paris, France Lab Excellence GR Ex, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceArnaud, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hosp Creteil, Reference Ctr Sickle Cell Dis, Dept Gen Pediat, Creteil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceBarrey, Catherine论文数: 0 引用数: 0 h-index: 0机构: St Camille Hosp, Dept Pediat, Bry Sur Marne, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceBenkerrou, Malika论文数: 0 引用数: 0 h-index: 0机构: Sickle Cell Dis Robert Debre Univ Hosp, Reference Ctr, Dept Child Hematol, AP HP, F-75019 Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceBenhaim, Patricia论文数: 0 引用数: 0 h-index: 0机构: Jean Verdier Hosp, Dept Pediat, AP HP, Bondy, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceBensaid, Philippe论文数: 0 引用数: 0 h-index: 0机构: Victor Dupouy Hosp, Dept Pediat, Argenteuil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceBrousse, Valentine论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Necker Hosp Sick Children, Reference Ctr Sickle Cell Dis, Dept Gen Pediat & Pediat Infect Dis,AP HP, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Lab Cellular & Mol Mech Hematol Disorders & Thera, Inserm U1163, Imagine Inst, Paris, France Lab Excellence GR Ex, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceDollfus, Catherine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ Paris, Dept Pediat Hematol Oncol, AP HP, Armand Trousseau Hosp, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceEyssette-Guerreau, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Rene Dubos Hosp, Dept Pediat, Pontoise, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGalacteros, Frederic论文数: 0 引用数: 0 h-index: 0机构: Henri Mondor Hosp, Sickle Cell Referral Ctr, Internal Med Unit, Labex GRex,AP HP,UPEC,IMRB Team 2, Creteil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGajdos, Vincent论文数: 0 引用数: 0 h-index: 0机构: Antoine Beclere Univ Hosp, AP HP, Dept Pediat, Clamart, France Ctr Res Epidemiol & Populat Hlth, Villejuif, France Saclay Univ, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGarrec, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Marne la Vallee Hosp, Dept Pediat, Jossigny, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGuillaumat, Cecile论文数: 0 引用数: 0 h-index: 0机构: Sud Francilien Hosp, Dept Pediat, F-91100 Corbeil Essonnes, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGuitton, Corinne论文数: 0 引用数: 0 h-index: 0机构: Bicetre Hosp, Reference Ctr Sickle Cell Dis, Pediat Dept, AP HP, Le Kremlin Bicetre, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceMonfort-Gouraud, Marie论文数: 0 引用数: 0 h-index: 0机构: Meaux Hosp, Dept Pediat, Meaux, Seine & Marne, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceGouraud, Francois论文数: 0 引用数: 0 h-index: 0机构: Meaux Hosp, Dept Pediat, Meaux, Seine & Marne, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceHolvoet, Laurent论文数: 0 引用数: 0 h-index: 0机构: Sickle Cell Dis Robert Debre Univ Hosp, Reference Ctr, Dept Child Hematol, AP HP, F-75019 Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceIthier, Ghislaine论文数: 0 引用数: 0 h-index: 0机构: Sickle Cell Dis Robert Debre Univ Hosp, Reference Ctr, Dept Child Hematol, AP HP, F-75019 Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceKamdem, Annie论文数: 0 引用数: 0 h-index: 0机构: Hosp Creteil, Reference Ctr Sickle Cell Dis, Dept Gen Pediat, Creteil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceKoehl, Berengere论文数: 0 引用数: 0 h-index: 0机构: Sickle Cell Dis Robert Debre Univ Hosp, Reference Ctr, Dept Child Hematol, AP HP, F-75019 Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceMalric, Aurore论文数: 0 引用数: 0 h-index: 0机构: St Denis Hosp, Dept Pediat, St Denis, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceMissud, Florence论文数: 0 引用数: 0 h-index: 0机构: Sickle Cell Dis Robert Debre Univ Hosp, Reference Ctr, Dept Child Hematol, AP HP, F-75019 Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceMonier, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Simone Veil Hosp, Dept Pediat, Montmorency Foret, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceOdievre, Marie-Helene论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Dept Gen Pediat & Pediat Infect Dis, Ctr Sickle Cell Dis, Armand Trousseau Hosp,AP HP, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceJoly, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, COMUE Lyon, Lab Interuniv Biol Motricite LIBM EA7424, Equipe Biol Vasc & Globule Rouge, Villeurbanne, France PRES Sorbonne, Lab Excellence Globule Rouge Labex GR Ex, Paris, France Hosp Civils Lyon, UF Biochim Pathol Erythrocytaires, Grp Hosp Est, Lab Biochim & Biol Mol Grand Est, Bron, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceRenoux, Celine论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, COMUE Lyon, Lab Interuniv Biol Motricite LIBM EA7424, Equipe Biol Vasc & Globule Rouge, Villeurbanne, France PRES Sorbonne, Lab Excellence Globule Rouge Labex GR Ex, Paris, France Hosp Civils Lyon, UF Biochim Pathol Erythrocytaires, Grp Hosp Est, Lab Biochim & Biol Mol Grand Est, Bron, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FrancePatin, Franck论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FrancePissard, Serge论文数: 0 引用数: 0 h-index: 0机构: Lab Excellence GR Ex, Paris, France Inst Mondor Rech Biomol IMRB, Inst Natl Sante & Rech Med INSERM U 955 eq 2, Paris, France Henri Mondor Hosp, Mol Genet Dept, AP HP, Creteil, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, FranceCouque, Nathalie论文数: 0 引用数: 0 h-index: 0机构: AP HP, Mol Genet Dept, Paris, France Robert Debre Hosp, Newborn Screening Lab Hemoglobinopathies, AP HP, Paris, France
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