Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Alan M. Aron"'
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:
Margaret M. McGovern, Robert J. Desnick, Melissa P. Wasserstein, Calogera M. Simonaro, Alan M. Aron, Scott E. Brodie
Publikováno v:
The Journal of Pediatrics. 149:554-559
Objective To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. Study design Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142910a05dbe35b24c56108868276a11
https://doi.org/10.1016/j.jpeds.2006.06.034
https://doi.org/10.1016/j.jpeds.2006.06.034
Autor:
Marianna Wilson, Jose Munoz, Alan M. Aron, Ana Flisser, Peter M. Schantz, Barry J. Hartman, Elsa Sarti, Anne C. Moore, John A. Schaefer, Deborah Persaud
Publikováno v:
New England Journal of Medicine. 327:692-695
From June 1990 through July 1991, intracerebral infection with the larval stage of the pork tapeworm Taenia solium was diagnosed in four unrelated persons in an Orthodox Jewish community in New York City. None of the patients had eaten pork, and only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74f0cb6e3d6d9cb92c540f60a1c51c53
https://doi.org/10.1056/nejm199209033271004
https://doi.org/10.1056/nejm199209033271004
Autor:
David S. Hodes, Chun K. Kim, Alan M. Aron, Steven L. Kugler, Alexander C. Hyatt, Aryeh L. Stollman, Asher Barzilai
Publikováno v:
Pediatric Neurology. 7:207-210
An acute hemiplegia secondary to a large cerebral infarct is described in a 16-month-old infant with congenitally-acquired human immunodeficiency virus infection. Serial imaging studies during the next year documented improvement in his hemiplegia an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6092c424b6e4885d82ae46a9fa0654b
https://doi.org/10.1016/0887-8994(91)90086-z
https://doi.org/10.1016/0887-8994(91)90086-z
Autor:
Darius J. Adams, Emma Ciafaloni, David A. Wenger, Joseph J. Orsini, Jill Miller-Horn, David Kronn, Stanley J. Rothman, Marc C. Patterson, Joanne Kurtzberg, Mary R. Andriola, Patricia Galvin-Parton, Maria L. Escolar, Laura Helton, James M. Provenzale, Alexandra Djukic, Michele Caggana, Jennifer M. Kwon, Paul A. Levy, Georgianne L. Arnold, Patricia K. Duffner, Barry E. Kosofsky, Melissa P. Wasserstein, Joan E. Pellegrino, Richard W. Erbe, Carl J. Crosley, Edwin H. Kolodny, Thomas P. Naidich, Alan M. Aron
Publikováno v:
Pediatric neurology. 40(4)
Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f893127867b4498ae24254a436ce87
https://pubmed.ncbi.nlm.nih.gov/19589470
https://pubmed.ncbi.nlm.nih.gov/19589470
Autor:
Margaret M. McGovern, Scott E. Brodie, Alan M. Aron, Edward H. Schuchman, Melissa P. Wasserstein, Robert J. Desnick
Publikováno v:
Ophthalmology. 111(7)
Purpose To investigate the ocular manifestations in Niemann–Pick disease type B (NPD-B). Design Observational case series. Participants Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families. Methods Serial clinical evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b07d2d813cf5588b06859a1d62aef64
https://pubmed.ncbi.nlm.nih.gov/15234149
https://pubmed.ncbi.nlm.nih.gov/15234149
Publikováno v:
Annals of Neurology. 35:123-124
A 21-year-old woman with neurofibromatosis type 1 (NF-1) had a unilateral congenital Horner's syndrome with resultant hypopigmentation of the affected iris. Lisch nodules, which are melanocytic hamartomas, were similar in number, size, and pigmentati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ff44fbd483e753b6dde183b52fd91c
https://doi.org/10.1002/ana.410350121
https://doi.org/10.1002/ana.410350121
Autor:
Charles B. Brill, Alan M. Aron
Publikováno v:
Journal of Pediatric Ophthalmology & Strabismus. 12:215-219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ced1d296123e07159e9fcce930458ac
https://doi.org/10.3928/0191-3913-19751101-04
https://doi.org/10.3928/0191-3913-19751101-04
Publikováno v:
The American Journal of Medicine. 35:737-748
A kindred of fifty-five members has been described of whom twenty-eight, extending through four generations, have renal disease. In addition, four members transmitted the disorder but were apparently normal. The renal disease appears to be more sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fbd0c0c2e87c2040175f23ef6992f6d
https://doi.org/10.1016/0002-9343(63)90237-7
https://doi.org/10.1016/0002-9343(63)90237-7
Publikováno v:
The Journal of Pediatrics. 83:824-827
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a95b8cabc4f97cfb63bb64d9a7e671f
https://doi.org/10.1016/s0022-3476(73)80377-4
https://doi.org/10.1016/s0022-3476(73)80377-4