Zobrazeno 1 - 10
of 22
pro vyhledávání: '"William B Hannah"'
Autor:
Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205257 (2018)
Previous reports of lung function in cystic fibrosis (CF) patients with liver disease have shown worse, similar, or even better forced expiratory volume in 1 second (FEV1), compared to CF patients without liver disease. Varying definitions of CF live
Externí odkaz:
https://doaj.org/article/d610d9ed73a640a49d3eeb82b2a77946
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:
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2649c328ec4d1786b0d48787b10fea00
https://pubmed.ncbi.nlm.nih.gov/35972026
https://pubmed.ncbi.nlm.nih.gov/35972026
Publikováno v:
Annals of Neurology. 90:1001-1002
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6be896ad6564ad71b4bdbc0dc9ef29
https://doi.org/10.1002/ana.26236
https://doi.org/10.1002/ana.26236
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04510132ff8ea185740ee0e51700575b
https://doi.org/10.1016/j.ymgmr.2021.100825
https://doi.org/10.1016/j.ymgmr.2021.100825
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29060606aab39c97beddc6350d368b04
http://europepmc.org/articles/PMC6895572
http://europepmc.org/articles/PMC6895572
Autor:
Sarah Taves, Junjiang Sun, Eric W. Livingston, Xin Chen, Jerome Amiaud, Regis Brion, William B. Hannah, Ted A. Bateman, Dominique Heymann, Paul E. Monahan
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)
While joint damage is the primary co-morbidity of hemophilia, osteoporosis and osteopenia are also observed. Coagulation factor VIII deficient (FVIII−/−) mice develop an osteoporotic phenotype in the absence of induced hemarthrosis that is exacer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cc151daa7f64d41f639b206cdd650e59
http://europepmc.org/articles/PMC6783554
http://europepmc.org/articles/PMC6783554