Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Joan E Pellegrino"'
Autor:
Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 28 (2021)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later
Externí odkaz:
https://doaj.org/article/b2e625b1690f44cbb0e90cbc2881fb22
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:
Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Camille Corre, Joseph J. Orsini, Robert Thompson-Stone, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 28, p 28 (2021)
International Journal of Neonatal Screening, Vol 7, Iss 28, p 28 (2021)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::525f697866bfb3485a731ed752f78c3b
http://europepmc.org/articles/PMC8162352
http://europepmc.org/articles/PMC8162352
Publikováno v:
Molecular Genetics and Metabolism. 132:S162-S163
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d462ff112cc6379ab31a7aa904614f65
https://doi.org/10.1016/s1096-7192(21)00341-3
https://doi.org/10.1016/s1096-7192(21)00341-3
Autor:
Lissette Estrella, Patricia K. Duffner, Alejandro Iglesias, David A. Wenger, James M. Provenzale, Joseph J. Orsini, Jennifer M. Kwon, Denise M. Kay, Patricia Galvin-Parton, Georgianne L. Arnold, Joan E. Pellegrino, Maria L. Escolar, David Kronn, Michele Caggana, Joanne Kurtzberg, Richard W. Erbe, Alan M. Aron, Paul A. Levy, Mary R. Andriola, Thomas P. Naidich, Melissa P. Wasserstein, Thomas J. Langan
Publikováno v:
Genetics in Medicine. 18:1235-1243
Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. Infants with abnormal newb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f0958e0ba6bf53e9effc3fbd658442
https://doi.org/10.1038/gim.2016.35
https://doi.org/10.1038/gim.2016.35
Autor:
Melissa P. Wasserstein, Gerald V. Raymond, David Kronn, Darius J. Adams, Joan E. Pellegrino, Richard W. Erbe, Chin-To Fong, A. Iglesias, Mark A. Morrissey, Beth Vogel, P. Parton, Joseph J. Orsini, Natasha Shur, S. E. Bradley, Michele Caggana, P. Levy, Carlos A. Saavedra-Matiz, Kristin D'Aco
Publikováno v:
Molecular Genetics and Metabolism. 114:599-603
Purpose To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed6412d24f5d7b5d10ac44a8858eb39
https://doi.org/10.1016/j.ymgme.2015.02.002
https://doi.org/10.1016/j.ymgme.2015.02.002
Autor:
Dawn Peck, M. Christine Dorley, Silvia Tortorelli, Joseph J. Orsini, Joanne Kurtzberg, Amy L. White, Dimitar Gavrilov, Vinod K. Prasad, Dietrich Matern, Coleman T. Turgeon, Gessi Bentz Pino, Ai Sakonju, Michael H. Gelb, Kimiyo Raymond, Piero Rinaldo, Devin Oglesbee, Joan E. Pellegrino, April Studinksi
Publikováno v:
Molecular Genetics and Metabolism. 123:S142
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::084779e862b98b0e01aa00755a183917
https://doi.org/10.1016/j.ymgme.2017.12.392
https://doi.org/10.1016/j.ymgme.2017.12.392
Autor:
Patricia Galvin-Parton, David A. Wenger, Melissa P. Wasserstein, Denise M. Kay, Joan E. Pellegrino, Lea M. Krein, David Kronn, Carlos A. Saavedra-Matiz, Michele Caggana, Richard W. Erbe, Jennifer M. Kwon, Maria L. Escolar, Alejandro D. Iglesias, Chad K. Biski, Natasha Shur, Monica Martin, Georgianne L. Arnold, Joseph J. Orsini, Paul A. Levy, Matthew Nichols, Joanne Kurtzberg, Darius J. Adams, Patricia K. Duffner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(3)
Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce705e5890c12e28f1928f7d14c75af
https://pubmed.ncbi.nlm.nih.gov/26845105
https://pubmed.ncbi.nlm.nih.gov/26845105
Autor:
Ryan Miller, Hong Lu, Joan E. Pellegrino, Xiang Li, Hsiao-Mei Lu, Kelly Gonzalez, Elizabeth C. Chao, Wenqi Zeng
Disorders of cobalamin deficiency are a heterogeneous group of disorders with at least 19 autosomal recessive-associated genes. Familial samples of an infant who died due to presumed cobalamin deficiency were referred for clinical exome sequencing. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a110ef6e584b717e886a05467960fdbe
https://doi.org/10.1007/8904_2014_294
https://doi.org/10.1007/8904_2014_294
Publikováno v:
American Journal of Medical Genetics. 99:200-203
Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8de9307daf9e0bbdf45e6062b74fb5e
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1152>3.0.co
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1152>3.0.co