Zobrazeno 1 - 10
of 22
pro vyhledávání: '"William B. Hannah"'
Autor:
William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 393-400 (2023)
Abstract Late‐onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other pot
Externí odkaz:
https://doaj.org/article/d8832d4d282b4cac8148d3645a6ca744
Autor:
William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100848- (2022)
Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first pa
Externí odkaz:
https://doaj.org/article/07a200960c8d40debf82d7cb9edde86c
Autor:
William B. Hannah, Gregory Nizialek, Katherine J. Dempsey, Keith B. Armitage, Shawn E. McCandless, Laura L. Konczal
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100825- (2021)
Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although Cryptococcus neoformans is known to be urease-producing, to our knowledge it has not
Externí odkaz:
https://doaj.org/article/56473f36fda34e729ad5ab41882a1530
Autor:
Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/2c4f3909c6954458a7bedeacb22cbb89
Autor:
William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with
Externí odkaz:
https://doaj.org/article/f5520ae4f14f47fd9a67479afdbf884f
Autor:
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intell
Externí odkaz:
https://doaj.org/article/05925ae70dfb4d988f4b54da6cd65b90
Autor:
William B. Hannah, Katherine Ryan, Surekha Pendyal, T. Andrew Burrow, Susan E. Harley, Miranda Cordell, Chad M. McCall, Alisha M. Mavis, Queenie K.‐G. Tan, Priya S. Kishnani
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(11)
There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein,
Publikováno v:
Annals of Neurology. 90:1001-1002
Autor:
Lori-Anne Schillaci, Shawn E. McCandless, Katherine J. Dempsey, Laura Konczal, Anthony Wynshaw-Boris, Jirair K. Bedoyan, William B. Hannah, Michael Zacharias
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with
Autor:
Katherine J. Dempsey, Laura Konczal, William B. Hannah, Shawn E. McCandless, Keith B. Armitage, Gregory Nizialek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100825-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although Cryptococcus neoformans is known to be urease-producing, to our knowledge it has not