Precision newborn screening for lysosomal disorders
Minter Baerg, Melissa M, Stoway, Stephanie D, Hart, Jeremy, Mott, Lea, Peck, Dawn S, Nett, Stephanie L, Eckerman, Jason S, Lacey, Jean M, Turgeon, Coleman T, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Matern, Dietrich, Mørkrid, Lars, Rinaldo, Piero
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
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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, Åhlman, 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, Zetterström, Rolf H, Currier, Robert J, Mørkrid, Lars, Rinaldo, Piero
Published in International journal of neonatal screening (23.04.2021)
Published in International journal of neonatal screening (23.04.2021)
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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Tangeraas, Trine, Constante, Juliana R, Backe, Paul Hoff, Oyarzábal, Alfonso, Neugebauer, Julia, Weinhold, Natalie, Boemer, Francois, Debray, François G, Ozturk-Hism, Burcu, Evren, Gumus, Tuba, Eminoglu F, Ummuhan, Oncul, Footitt, Emma, Davison, James, Martinez, Caroline, Bueno, Clarissa, Machado, Irene, Rodríguez-Pombo, Pilar, Al-Sannaa, Nouriya, De Los Santos, Mariela, López, Jordi Muchart, Ozturkmen-Akay, Hatice, Karaca, Meryem, Tekin, Mustafa, Pajares, Sonia, Ormazabal, Aida, Stoway, Stephanie D, Artuch, Rafael, Dixon, Marjorie, Mørkrid, Lars, García-Cazorla, Angeles
Published in Brain (London, England : 1878) (03.07.2023)
Published in Brain (London, England : 1878) (03.07.2023)
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A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
Wegwerth, Peter J., White, Amy L., Stoway, Stephanie D., Loken, Perry R., Oglesbee, Devin, Matern, Dietrich, Tortorelli, Silvia, Raymond, Kimiyo M., Braverman, Nancy E., Gavrilov, Dimitar K.
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
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