Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Gisele Pino"'
Autor:
Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100880- (2024)
Externí odkaz:
https://doaj.org/article/3ae0b3dc15f34836bc7a224831b13af6
Autor:
Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100004- (2023)
Externí odkaz:
https://doaj.org/article/67014a04d23645f199979537b529cca9
Autor:
Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100028- (2023)
Externí odkaz:
https://doaj.org/article/d4bc0db2432d4d1a8cabb2aed38ac3c3
Autor:
Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 33 (2020)
The expansion of the recommend uniform screening panel to include more than 50 primary and secondary target conditions has resulted in a substantial increase of false positive results. As an alternative to subjective manipulation of cutoff values and
Externí odkaz:
https://doaj.org/article/904bd8ab02a84ef68fc73c50d401dd1e
Autor:
Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 10 (2020)
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sul
Externí odkaz:
https://doaj.org/article/d1951ec02fb74365a4d7fe391d671752
Autor:
Gisele Pino, Dawn Peck, April Studinski, Amy White, Dimitar Gavrilov, Devin Oglesbee, Silvia Tortorelli, Patricia Hall, Matthew Schultz, Dietrich Matern
Publikováno v:
Molecular Genetics and Metabolism. 138:107469
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::327f56594347558d3838ff80669cba21
https://doi.org/10.1016/j.ymgme.2023.107469
https://doi.org/10.1016/j.ymgme.2023.107469
Autor:
Rani H. Singh, Matthew J. Schultz, Gisele Pino, Piero Rinaldo, Brian C. Netzel, Kimiyo Raymond, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Wendy E. Smith, Dimitar Gavrilov
Publikováno v:
Molecular Genetics and Metabolism. 130:247-254
Background The prognosis of patients with Hereditary Tyrosinemia Type 1 (HT-1) has greatly improved with early detection through newborn screening and the introduction of nitisinone (NTBC) therapy. A recent guideline calls for periodic monitoring of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe84ae96fd4450e4ced9f86b1c96295
https://doi.org/10.1016/j.ymgme.2020.06.001
https://doi.org/10.1016/j.ymgme.2020.06.001
Autor:
Joanne Kurtzberg, Vinod K. Prasad, Adam J. Guenzel, Coleman T. Turgeon, Joan E. Pellegrino, Gisele Pino, Kimiyo Raymond, Amy L. White, Maria L. Escolar, Rachel Hickey, Devin Oglesbee, Dawn Peck, Piero Rinaldo, Ai Sakonju, Margie A. Ream, Silvia Tortorelli, Joseph J. Orsini, Natalie M. Shallow, April Studinski, Michael H. Gelb, Dimitar Gavrilov, Kim K. Nickander, Maria Laura Duque Lasio, Dietrich Matern
Publikováno v:
Genetics in Medicine. 22:1108-1118
Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine (PSY) was proposed as a disease marker u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47210c51ffe5b05fc9c0888ea3c4791
https://doi.org/10.1038/s41436-020-0764-y
https://doi.org/10.1038/s41436-020-0764-y
Autor:
Dietrich Matern, Kimiyo Raymond, Kim K. Nickander, Devin Oglesbee, Piero Rinaldo, Jean M. Lacey, April Studinski, Silvia Tortorelli, Amy M White, Maira Burin, Gisele Pino, Erin Conboy, Sara Minnich, Roberto Giugliani, Dimitar Gavrilov, Dawn Peck
Publikováno v:
Molecular Genetics and Metabolism. 129:106-110
Purpose To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine. Methods Glycosaminoglycans were analyzed by liquid chromatography-tandem mas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650af8ffc8e2fde22df2495f60bf668e
https://doi.org/10.1016/j.ymgme.2019.10.009
https://doi.org/10.1016/j.ymgme.2019.10.009
Autor:
Gisele Pino, Kim Nickander, April Studinski, Dawn Peck, Amy White, Jean Lacey, Dimitar Gavrilov, Devin Oglesbee, Silvia Tortorelli, Dietrich Matern, Kimiyo Raymond
Publikováno v:
Molecular Genetics and Metabolism. 135:S98-S99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9279f86155a9548bfe0a6c2e9a325e56
https://doi.org/10.1016/j.ymgme.2021.11.258
https://doi.org/10.1016/j.ymgme.2021.11.258