Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Joseph R. Bloomer"'
Autor:
Yongming Wang, Montgomery Bissell, Manisha Balwani, John D. Phillips, Herbert L. Bonkovsky, Robert J. Desnick, Collin Farrell, Toni Seay, Barry H. Paw, Karl E. Anderson, Joseph R. Bloomer, Ashwani K. Singal
Publikováno v:
Mol Genet Metab
Accumulation of protoporphyrin IX (PPIX) and Zn-PPIX, are the clinical hallmarks of protoporphyria. Phenotypic expression of protoporphyria is due to decreased activity of ferrochelatase (FECH) or to increased activity of aminolevulinic acid synthase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc5464b53053f6f2538b0ca6f72a905
https://doi.org/10.1016/j.ymgme.2018.10.005
https://doi.org/10.1016/j.ymgme.2018.10.005
Autor:
Robert J. Desnick, Herbert L. Bonkovsky, D. Montgomery Bissell, Manisha Balwani, Joseph R. Bloomer, Hetanshi Naik, Jessica Overbey, Karl E. Anderson, Bruce Wang, John D. Phillips, Ashwani K. Singal
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 9-19 (2019)
JIMD Reports
JIMD reports, vol 50, iss 1
JIMD Reports
JIMD reports, vol 50, iss 1
Author(s): Naik, Hetanshi; Overbey, Jessica R; Desnick, Robert J; Anderson, Karl E; Bissell, D Montgomery; Bloomer, Joseph; Bonkovsky, Herbert L; Phillips, John D; Wang, Bruce; Singal, Ashwani; Balwani, Manisha | Abstract: BackgroundErythropoietic pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead913d142a729374f345bfc03d148e3
https://doaj.org/article/8ff7d0c724624c68a6b8a8340f7f3b3d
https://doaj.org/article/8ff7d0c724624c68a6b8a8340f7f3b3d
Autor:
Laurent Gouya, Robert J. Desnick, Montgomery D. Bissel, Manisha Balwani, Charles J. Parker, Karl E. Anderson, John D. Phillips, Joseph R. Bloomer, Hervé Puy, Ashwani K. Singal
Publikováno v:
Mol Genet Metab
Erythropoietic protoporphyria (EPP), the most common porphyria of childhood and the third most common porphyria of adulthood, is characterized clinically by painful, non-blistering cutaneous photosensitivity. Two distinct inheritance patterns involvi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25876017bf28255201640d9142e3e2b
https://doi.org/10.1016/j.ymgme.2019.07.017
https://doi.org/10.1016/j.ymgme.2019.07.017
Autor:
Matilda Lillian Culp, Joseph R. Bloomer, Balu K. Chacko, John D. Phillips, Yong Fang Kuo, Victor M. Darley-Usmar, Ashwani K. Singal
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress. Recently, it has beco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dada7317090dc2e7c28cddf2e12654e
http://europepmc.org/articles/PMC6355507
http://europepmc.org/articles/PMC6355507
Autor:
Joseph R. Bloomer
Publikováno v:
Hepatology. 64:8-12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5027251cbc71bc3502fd8c09c3762a
https://doi.org/10.1002/hep.28593
https://doi.org/10.1002/hep.28593
Autor:
Sioban Keel, Herbert L. Bonkovsky, Manisha Balwani, D. Montgomery Bissell, Robert J. Desnick, Hetanshi Naik, Eric Gou, John D. Phillips, Karl E. Anderson, Bruce Wang, Joseph R. Bloomer, Ashwani K. Singal
Publikováno v:
Clinical chemistry, vol 61, iss 12
BACKGROUNDLaboratory diagnosis of erythropoietic protoporphyria (EPP) requires a marked increase in total erythrocyte protoporphyrin (300–5000 μg/dL erythrocytes, reference interval CONTENTIn studying more than 180 patients with EPP and XLP, the P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c4465aa3b25caae42df4217d1fbbea
https://doi.org/10.1373/clinchem.2015.245456
https://doi.org/10.1373/clinchem.2015.245456
Autor:
David F. Butler, Nancy Shreve, Alexander Kats, James F. Daniel, Joseph R. Bloomer, G.D. Myers, Kevin Ginn
Publikováno v:
Pediatric Transplantation. 19:E106-E110
XLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5-aminolevulinate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072e015006bb768d87dc780e0676e9d1
https://doi.org/10.1111/petr.12472
https://doi.org/10.1111/petr.12472
Autor:
Ashwani K. Singal, Khalid Rasheed, Donny Kakati, Joseph R. Bloomer, Evan Raff, Mohamed Shoreibah
Publikováno v:
Journal of Clinical and Translational Hepatology
Background and Aims Alcohol abuse and nonalcoholic fatty liver disease (NAFLD) are common causes of liver disease. Diabetes mellitus (DM) is a common comorbidity among NAFLD patients. We performed this study with the specific aim to examine the impac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f601da2d7d35cebc804729f62d1a63e3
https://doi.org/10.14218/jcth.2015.00001
https://doi.org/10.14218/jcth.2015.00001
Autor:
D. Montgomery Bissell, Robert J. Desnick, Laura Gandolfo, Herbert L. Bonkovsky, Inga Peter, David F. Bishop, Cemal Yazici, Vinaya C. Maddukuri, Joseph R. Bloomer, Karl E. Anderson, Carrie Light, Hetanshi Naik, John D. Phillips, Krista Bossi, Gwen Baillargeon
Publikováno v:
The American Journal of Medicine. 127:1233-1241
Background Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects. Methods Between September 2010 and De
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9202fc77203141fa7de77af07835607
https://doi.org/10.1016/j.amjmed.2014.06.036
https://doi.org/10.1016/j.amjmed.2014.06.036
Autor:
Bruce, Wang, Manisha, Balwani, Herbert L, Bonkovsky, Karl E, Anderson, Joseph R, Bloomer, D Montgomery, Bissell, John D, Phillips, Robert J, Desnick
Publikováno v:
Hepatology (Baltimore, Md.). 67(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa55a8ddb2d52d2b687236dd5b60cd8a
https://pubmed.ncbi.nlm.nih.gov/29140538
https://pubmed.ncbi.nlm.nih.gov/29140538