未登录 A new biochemical assay to measure plasmalogens with CLIR disease differentiation Wegwerth, Peter; Gavrilov, Dimitar; White, Amy; Matern, Dietrich; Rinaldo, Piero; Oglesbee, Devin; Tortorelli, Silvia; Raymond, Kimiyo; Stoway, Stephanie; Loken, Perry 分享 收藏
COASY-associated pontocerebellar hypoplasia - A possible additional secondary target detectable by expanded newborn screening? Stander, Zinandre; Rosati, Justin; Johnson, Jessica; Lee, Bo Hoon; Fong, Chin-To; Bailey, Diana; Tortorelli, Silvia; White, Amy; Morrissey, Mark; Rinaldo, Piero 分享 收藏
Limited Expansion of Human Hepatocytes in FAH/RAG2-Deficient Swine Nelson, Erek David; Larson, Ellen; Joo, Dong Jin; Mao, Shennen; Glorioso, Jaime; Abu Rmilah, Anan; Zhou, Wei; Jia, Yao; Mounajjed, Taofic; Shi, Min; Bois, Melanie; Wood, Adam; Jin, Fang; Whitworth, Kristin; Wells, Kevin; Spate, Anna; Samuel, Melissa; Minshew, Anna; Walters, Eric; Rinaldo, Piero; Lillegard, Joseph B.; Johnson, Aaron; Amiot, Bruce; Hickey, Raymond; Prather, Randall; Platt, Jeffrey L.; Nyberg, Scott L. 分享 收藏
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A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools Rowe, Alexander D.; Stoway, Stephanie D.; Ahlman, Henrik; Arora, Vaneet; Caggana, Michele; Fornari, Anna; Hagar, Arthur; Hall, Patricia L.; Marquardt, Gregg C.; Miller, Bobby J.; Nixon, Christopher; Norgan, Andrew P.; Orsini, Joseph J.; Pettersen, Rolf D.; Piazza, Amy L.; Schubauer, Neil R.; Smith, Amy C.; Tang, Hao; Tavakoli, Norma P.; Wei, Sainan; Zetterstrom, Rolf H.; Currier, Robert J.; Morkrid, Lars; Rinaldo, Piero 分享 收藏
Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonates Byeon, Seul Kee; Khanam, Rasheda; Rahman, Sayedur; Hasan, Tarik; Rizvi, Syed Jafar Raza; Madugundu, Anil K.; Ramarajan, Madan Gopal; Jung, Jae Hun; Chowdhury, Nabidul H.; Ahmed, Salahuddin; Raqib, Rubhana; Kim, Kwang Pyo; Piazza, Amy L.; Rinaldo, Piero; Pandey, Akhilesh; Baqui, Abdullah H. 分享 收藏
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency Kirby, Trevor; Walters, Dana C.; Shi, Xutong; Turgeon, Coleman; Rinaldo, Piero; Arning, Erland; Ashcraft, Paula; Bottiglieri, Teodoro; DiBacco, Melissa; Pearl, Phillip L.; Roullet, Jean-Baptiste; Gibson, K. Michael 分享 收藏
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Laboratory monitoring of patients with hereditary tyrosinemia type I Schultz, Matthew J.; Netzel, Brian C.; Singh, Rani H.; Pino, Gisele B.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Rinaldo, Piero; Tortorelli, Silvia; Smith, Wendy E.; Matern, Dietrich 分享 收藏
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses Tangeraas, Trine; Saeves, Ingjerd; Klingenberg, Claus; Jorgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnporunn; Hansen, Eirik Vangsoy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T.; Sagredo, Carlos; Olsen, Oyvind E.; Berge, Mona C.; Tromborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sorgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Lovoll, Siv M.; Klovstad Olavsen, Mette R.; Navarrete, Dionne; Gaup, Hege J.; Lilje, Rina; Zetterstrom, Rolf H.; Stray-Pedersen, Asbjorg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D.; Pettersen, Rolf D. 分享 收藏
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease Guenzel, Adam J.; Turgeon, Coleman T.; Nickander, Kim K.; White, Amy L.; Peck, Dawn S.; Pino, Gisele B.; Studinski, April L.; Prasad, Vinod K.; Kurtzberg, Joanne; Escolar, Maria L.; Lasio, Maria Laura Duque; Pellegrino, Joan E.; Sakonju, Ai; Hickey, Rachel E.; Shallow, Natalie M.; Ream, Margie A.; Orsini, Joseph J.; Gelb, Michael H.; Raymond, Kimiyo; Gavrilov, Dimitar K.; Oglesbee, Devin; Rinaldo, Piero; Tortorelli, Silvia; Matern, Dietrich 分享 收藏
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders Sanders, Karen A.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Tortorelli, Silvia; Hopwood, John J.; Lorey, Fred; Majumdar, Ramanath; Kroll, Charles A.; McDonald, Amber M.; Lacey, Jean M.; Turgeon, Coleman T.; Tucker, Justin N.; Tang, Hao; Currier, Robert; Isaya, Grazia; Rinaldo, Piero; Matern, Dietrich 分享 收藏
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes (vol 35, pg 601, 2020) Kirby, Trevor; Walters, Dana C.; Brown, Madalyn; Jansen, Erwin; Salomons, Gajja S.; Turgeon, Coleman; Rinaldo, Piero; Arning, Erland; Ashcraft, Paula; Bottiglieri, Teodoro; Roullet, Jean-Baptiste; Gibson, K. Michael 分享 收藏
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism Gavrilov, Dimitar K.; Piazza, Amy L.; Pino, Gisele; Turgeon, Coleman; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Tortorelli, Silvia; Rinaldo, Piero 分享 收藏
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes 琥珀酸半醛脱氢酶缺乏症 (SSADHD) 患者的死后组织分析。一、代谢组学结果 Kirby, Trevor; Walters, Dana C.; Brown, Madalyn; Jansen, Erwin; Salomons, Gajja S.; Turgeon, Coleman; Rinaldo, Piero; Arning, Erland; Ashcraft, Paula; Bottiglieri, Teodoro; Roullet, Jean-Baptiste; Gibson, K. Michael 分享 收藏
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I Peck, Dawn S.; Lacey, Jean M.; White, Amy L.; Pino, Gisele; Studinski, April L.; Fisher, Rachel; Ahmad, Ayesha; Spencer, Linda; Viall, Sarah; Shallow, Natalie; Siemon, Amy; Hamm, J. Austin; Murray, Brianna K.; Jones, Kelly L.; Gavrilov, Dimitar; Oglesbee, Devin; Raymond, Kimiyo; Matern, Dietrich; Rinaldo, Piero; Tortorelli, Silvia 分享 收藏
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria Pino, Gisele; Conboy, Erin; Tortorelli, Silvia; Minnich, Sara; Nickander, Kim; Lacey, Jean; Peck, Dawn; Studinski, April; White, Amy; Gavrilov, Dimitar; Rinaldo, Piero; Matern, Dietrich; Oglesbee, Devin; Giugliani, Roberto; Burin, Maira; Raymond, Kimiyo 分享 收藏
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