Results 91 to 100 of about 113,339 (205)

HLA determinants in an Australian population of hemochromatosis patients and their families [PDF]

, 1989
The frequencies of different HLA-A and -B alleles in 77 Australian patients with hemochromatosis have been compared with frequencies of HLA alleles not associated with hemochromatosis in 63 of their heterozygous relatives and with published population ...
Tam, K S, Halliday, J W, Summers, K M, Powell, L W   +3 more
core  

Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

Canadian Journal of Gastroenterology, 2011
BACKGROUND: Mitochondrial DNA (mtDNA) and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously.
Caitlin J Symonette, Paul C Adams
doaj   +1 more source

2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [PDF]

, 2010
Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art ...
S. Waserman, Harmat, George, E. Leith, Bernstein Jonathan, Bowen, Tom, Leith, Eric, Doris Neurath, Craig, Timothy, Paul K Keith, Eric Leith, A. Hamed, D. Moldovan, Zuraw Bruce, Betschel Stephen, Avner Reshef, Dean, John, Cicardi Marco, Moldovan, Dumitru, Lilian Varga, Hilary J Longhurst, Rowe Anne, Nordenfelt Patrik, Barbara Mako, Harmat George, B. Ritchie, Martinez-Saguer, Inmaculada, Fust George, Della Cogar, Inmaculada Martinez-Saguer, George Fust, Devaraj, Ramachand, Mike Frank, Richard Warrington, J. Bernstein, Rowan, Dereth, Nielsen Erik W, Li, Henry, Tsai Ellie, D. Cogar, Timothy Craig, Zhi Xiang, Poon Man-Chiu, J. Brosz, E. Tsai, Marco Cicardi, R. Schellenberg, R. Warrington, Sur, Smeeksha, B. Mako, I. Nagy, Bork, Konrad, Frank Mike, George Harmat, Frank, Mike, Karen Binkley, H. Lyons, Schellenberg, Robert, Longhurst, Hilary, Erik W Nielsen, L. Varga, Farkas Henriette, Henriette Farkas, Mako, Barbara, Devaraj Ramachand, Longhurst Hilary J, G. E. Rivard, Rusicke, Eva, Hamed, Azza, Kreuz, Wolfhart, Eva Rusicke, Poon, Man-Chiu, Späth, Peter, Binkley Karen, Anne Rowe, Craig Timothy, Istvan Nagy, Neurath, Doris, Xiang, Zhi Yu, Bowen Tom, E. W. Nielsen, Lacuesta, Gina, Sean Mace, Bouillet Laurence, Nagy Istvan, Lacuesta Gina, Brosz Kristylea, Nielsen, Erik W, John Brosz, D. Rowan, D. Neurath, Peter Späth, A. Kanani, Nagy, Istvan, Ameratunga Rohan, Bruce Ritchie, Aygoeren-Pürsün Emel, Li Henry, A. Rowe, G. Lacuesta, Keith Paul K, B. Zuraw, T. Craig, Ritchie, Bruce, Caballero Teresa, Cogar Della, S. Mace, M. Frank, Dumitru Moldovan, S. Betsche, Mace Sean, M. Poon, Zhi Yu Xiang, Lyons, Harriet, Waserman Susan, J. Dean, T. Caballero, Xiang Zhi, Tom Bowen, Rohan Ameratunga, Gina Lacuesta, M. Levi, Smith-Foltz Sarah, S. Sur, Brosz, John, Björkander, Janne, Aygören-Pürsün, Emel, Warrington Richard, Aygoeren-Pürsün, Emel, Susan Waserman, Binkley, Karen, Waserman, Susan, Ritchie Bruce, Donald Stark, Keith, Paul K, Xiang, Zhi Y, Bygum, Anette, Bruce Zuraw, Anette Bygum, H. Li, R. Ameratunga, Bork Konrad, Robert Schellenberg, Rivard Georges-Etienne, Sarah Smith-Foltz, Caballero, Teresa, I. Martinez Saguer, Reshef Avner, Martinez Saguer, Inmaculada, H. J. Longhurst, Varga Lilian, J. Björkander, Laurence Bouillet, Palinder Kamra, Leith Eric, Betschel, Stephen, Bernstein, Jonathan, Ellie Tsai, T. Bowen, K. Brosz, Ramachand Devaraj, J. Hebert, Rowe, Anne, L. Bouillet, Kristylea Brosz, Dereth Rowan, Marcel Levi, Neurath Doris, P. Späth, Kanani, Amin, G. Harmat, M. Cicardi, Kanani Amin, Bygum Anette, Stephen Betschel, Sur Smeeksha, Martinez-Saguer Inmaculada, G. Fust, Nordenfelt, Patrik, Teresa Caballero, Bouillet, Laurence, Fust, George, H. Farkas, Jonathan Bernstein, Levi, Marcel, Jacques Hebert, Keith, Paul K., Stark, Donald, P. Nordenfelt, Hebert, Jacques, Xiang, Zhi, Warrington, Richard, D. Stark, Harriet Lyons, A. Bygum, Longhurst, Hilary J, Stark Donald, Henry Li, Rowan Dereth, Farkas, Henriette, Lyons Harriet, Bygum, Anette; id_orcid, Levi Marcel, Kamra, Palinder, Dean John, Ameratunga, Rohan, E. Aygoeren Pürsün, A. Reshef, Brosz, Kristylea, Janne Björkander, R. Devaraj, Konrad Bork, P. K. Keith, Björkander Janne, Kamra Palinder, Bernstein, Jonathan A., Späth Peter, Azza Hamed, Schellenberg Robert, P. Kamra, Cicardi, Marco, Amin Kanani, Mace, Sean, Smeeksha Sur, Levi, Marcel M., Y. X. Zhi, Varga, Lilian, Reshef, Avner, S. Smith Foltz, Georges-Etienne Rivard, Rusicke Eva, Rivard, Georges-Etienne, Smith-Foltz, Sarah, K. Binkley, Yu Xiang, Zhi, Emel Aygoeren-Pürsün, Cogar, Della, Hebert Jacques, Patrik Nordenfelt, E. Rusicke, Brosz John, John Dean, Mako Barbara, Zuraw, Bruce, Moldovan Dumitru, W. Kreuz, K. Bork, Tsai, Ellie, Kreuz Wolfhart, Man-Chiu Poon, Wolfhart Kreuz, Nielsen, Erik W., Hamed Azza   +251 more
core   +1 more source

The prevalence of primary hereditary hemochromatosis in central Anatolia

, 2013
Background/aims: Hereditary hemochromatosis is an autosomal recessive disorder associated with the HFE genes. Early identification and diagnosis is important as end stage organ damage may occur if treatment is delayed..
ÖZKUL, Yusuf, GÜVEN, Kadri, Onal, Muge, BAŞKOL, Mevlüt, GÜRSOY, Şebnem, Karaca, Halit   +5 more
core   +1 more source

Mouse models of hereditary hemochromatosis do not develop early liver fibrosis in response to a high fat diet.

PLoS ONE, 2019
Hepatic iron overload, a hallmark of hereditary hemochromatosis, triggers progressive liver disease. There is also increasing evidence for a pathogenic role of iron in non-alcoholic fatty liver disease (NAFLD), which may progress to non-alcoholic ...
John Wagner, Carine Fillebeen, Tina Haliotis, Edouard Charlebois, Angeliki Katsarou, Jeannie Mui, Hojatollah Vali, Kostas Pantopoulos   +7 more
doaj   +1 more source

Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece

Haematologica, 2004
Mutations of the HJV gene, which maps on chromosome 1q21, underlie most cases of juvenile hemochromatosis. We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary ...
M Pissia, K Polonifi, M Politou, K Lilakos, N Sakellaropoulos, G Papanikolaou   +5 more
doaj  

Hereditary Hemochromatosis: Pathophysiological Basis and Emerging Therapeutic Approaches—A Systematic Review of Clinical Evidence

Future Pharmacology
Introduction: Hereditary hemochromatosis is a genetic disorder characterized by dysregulation of iron homeostasis, resulting in excessive intestinal iron absorption and progressive iron deposition in vital organs.
Victor Cardoso Jacinto da Silva, Janaina Pereira Dina Toreli, Edimar Cristiano Pereira, Araceli Aparecida Hastreiter, Beatriz Alves, Thais Gascon, Glaucia Raquel Luciano da Veiga, Samantha Sanchez de Carvalho, Fernando Luiz Affonso Fonseca   +8 more
doaj   +1 more source

Hereditary hemochromatosis--a new look at an old disease.

, 2004
This article has no abstract; the first 100 words appear below.For much of the 20th century, hereditary hemochromatosis was regarded as a clinically and genetically unique entity.
PIETRANGELO, Antonello
core   +1 more source

HEREDITARY HEMOCHROMATOSIS: A RARE DISEASE OR A DIFFICULT DIAGNOSIS FOR A GENERAL PRACTITIONER?

Медицина в Кузбассе
Hemochromatosis is a hereditary disease belonging to the group of storage diseases characterized by impaired iron metabolism with its pathological accumulation in vital organs, including the liver.
Александра Валерьевна Морозова, Ольга Александровна Морозова, Николай Андреевич Бичан   +2 more
doaj  

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload

Haematologica, 2006
The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices.
S Majore, F Milano, F Binni, L Stuppia, A Cerrone, A Tafuri, C De Bernardo, G Palka, P Grammatico   +8 more
doaj