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收藏分享 收藏 分享 收藏 分享 收藏 Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families (vol 7, 32, 2021)
Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B.; Fingerhut, Ralph 分享 收藏 分享 收藏 分享 收藏 Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families新生儿筛查漏诊的I型戊二酸尿症：来自三个家系的四例报告Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roeschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B.; Fingerhut, Ralph 分享 收藏 分享 收藏 Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010Loeber, J. Gerard; Platis, Dimitris; Zetterstroem, Rolf H.; Almashanu, Shlomo; Boemer, Francois; Bonham, James R.; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Dimitrov, Dobry; Fingerhut, Ralph; Franzson, Leifur; Groselj, Urh; Hougaard, David; Knapkova, Maria; Kocova, Mirjana; Kotori, Vjosa; Kozich, Viktor; Kremezna, Anastasiia; Kurkijaervi, Riikka; La Marca, Giancarlo; Mikelsaar, Ruth; Milenkovic, Tatjana; Mitkin, Vyacheslav; Moldovanu, Florentina; Ceglarek, Uta; O'Grady, Loretta; Oltarzewski, Mariusz; Pettersen, Rolf D.; Ramadza, Danijela; Salimbayeva, Damilya; Samardzic, Mira; Shamsiddinova, Markhabo; Songailiene, Jurgita; Szatmari, Ildiko; Tabatadze, Nazi; Tezel, Basak; Toromanovic, Alma; Tovmasyan, Irina; Usurelu, Natalia; Vevere, Parsla; Vilarinho, Laura; Vogazianos, Marios; Yahyaoui, Raquel; Zeyda, Maximilian; Schielen, Peter C. J., I 分享 收藏 Regulatory landscape of providing information on newborn screening to parents across EuropeFrankova, Vera; Driscoll, Riona O.; Jansen, Marleen E.; Loeber, J. Gerard; Kozich, Viktor; Bonham, James; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Fingerhut, Ralph; Kus, Iva Bilandzija; Girginoudis, Panagiotis; Groselj, Urh; Hougaard, David; Knapkova, Maria; la Marca, Giancarlo; Malniece, Ieva; Nanu, Michaela Iuliana; Nennstiel, Uta; Olkhovych, Nataliia; Oltarzewski, Mariusz; Pettersen, Rolf D.; Racz, Gabor; Reinson, Karit; Salimbayeva, Damilya; Songailiene, Jurgita; Vilarinho, Laura; Vogazianos, Marios; Zetterstrom, Rolf H.; Zeyda, Maximilian 分享 收藏 Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsConte, Federica; Morava, Eva; Abu Bakar, Nurulamin; Wortmann, Saskia B.; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C.; Morkrid, Lars; Hertecant, Jozef; Holmefjord, Katja S. Brocke; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Y.; van Scherpenzeel, Monique; Voermans, Nicol C.; Lefeber, Dirk J. 分享 收藏 分享 收藏 Liver humanized mouse as models for human metabolic liver diseasesStrom, Stephen; Srinivasan, Raghuraman Chittoor; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Haberle, Johannes; Allegri, Gabriella; Ruefenacht, Veronique; Thony, Beat; Fingerhut, Ralph; Nuoffer, Jean-Marc 分享 收藏 分享 收藏 Thyroglobulin Is Markedly Elevated in 6-to 24-Month-Old Infants at Both Low and High Iodine Intakes and Suggests a Narrow Optimal Iodine Intake RangeFarebrother, Jessica; Zimmermann, Michael B.; Assey, Vincent; Castro, Mary Christine; Cherkaoui, Mohamed; Fingerhut, Ralph; Jia, Qingzhen; Jukic, Tomislav; Makokha, Anselimo; San Luis, Theofilo O.; Wegmuller, Rita; Andersson, Maria 分享 收藏 Treatment of a metabolic liver disease by in vivo genome base editing in adult miceVilliger, Lukas; Grisch-Chan, Hiu Man; Lindsay, Helen; Ringnalda, Femke; Pogliano, Chiara B.; Allegri, Gabriella; Fingerhut, Ralph; Haberle, Johannes; Matos, Joao; Robinson, Mark D.; Thony, Beat; Schwank, Gerald 分享 收藏 Effect of Excess Iodine Intake from Iodized Salt and/or Groundwater Iodine on Thyroid Function in Nonpregnant and Pregnant Women, Infants, and Children: A Multicenter Study in East AfricaFarebrother, Jessica; Zimmermann, Michael B.; Abdallah, Fatma; Assey, Vincent; Fingerhut, Ralph; Gichohi-Wainaina, Wanjiku N.; Hussein, Izzeldin; Makokha, Anselimo; Sagno, Kalil; Untoro, Juliawati; Watts, Michael; Andersson, Maria 分享 收藏 分享 收藏 Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M.; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K.; Fingerhut, Ralph; Santoni, Federico A.; Ranza, Emmanuelle; Waryah, Ali M.; Bellen, Hugo J.; Antonarakis, Stylianos E. 分享 收藏 
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