Results 111 to 120 of about 113,339 (205)

Hereditary Hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

, 1999
Background and Methods Hereditary hemochromatosis in adults is usually characterized by mutations in the hemochromatosis (HFE) gene on the short arm of chromosome 6. Most patients have a substitution of tyrosine for cysteine at position 282 (C282Y).
VASTA F, GASPARINI, PAOLO, C. Sardini, TOTARO A, MONTOSI, Giuliana, F. Vasta, SARDINI C, MONTOSI G, PIETRANGELO, Antonello, CASSANELLI S, D. Conte, CASSANELLI, Stefano, PIETRANGELO A, P. Gasparini, CONTE D, GARUTI, Cinzia, FRAQUELLI M, GARUTI C, A. Totaro, M. Fraquelli   +19 more
core  

Hereditary Hemochromatosis as a Potential Contributor to Ischemic Stroke: A Case Report. [PDF]

Cureus
Jafri M, Khan Z, Lambroussis C, Jafri H.
europepmc   +1 more source

Mavacamten in Obstructive Hypertrophic Cardiomyopathy and C282Y Homozygous Hereditary Hemochromatosis: A First-in-Human Report. [PDF]

JACC Case Rep
Sam R, Ananthaneni A, Planek MI, Kogan A, Gordon R.   +4 more
europepmc   +1 more source

Acute portal thrombosis revealing hereditary hemochromatosis: Report of a case

, 2002
The authors report the case of a 49-year old man in whom an inaugural portal vein thrombosis led to the diagnosis of hereditary hemochromatosis. In this case, the increase in ferritinemia and the T2-weighted MRI hepatic segmental hyposignal were ...
Delval, Laetitia, Hilbert, Pascale, Vanhaeverbeek, Michel, Brohée, Dany, Cauchie, Philippe   +4 more
core  

Drug-Resistant Parkinson's Disease in a Patient With Hereditary Hemochromatosis: A Case Report. [PDF]

Cureus, 2023
Banta CW, Zonna X, Lott R, Jaisawal P, Elsisi A.   +4 more
europepmc   +1 more source

Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis. [PDF]

BMC Genomics
Nurm M, Annilo T, May-Wilson S, Reigo A, Mägi R, Võsa U, Tõnisson N, Estonian Biobank Research Team, Haller T.   +8 more
europepmc   +1 more source

Homozygous TFR2 (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia. [PDF]

Clin Case Rep
Raslan OM, Alamoudi DS.
europepmc   +1 more source

Beyond the Usual Suspects: Hereditary Hemochromatosis and Transaminitis in Primary Care. [PDF]

Cureus, 2023
Peesapati VSR, Varanasi P, Patel H, Akella SL.   +3 more
europepmc   +1 more source

Irony of Iron Overload: Hereditary Hemochromatosis Complicated by Alcoholic Hepatitis, Gastrointestinal Bleeding, and Intramuscular Hematoma. [PDF]

Cureus
Del Mundo HJF, Espiritu AJ, Ong BE, Manansala H, Bhanderi H.   +4 more
europepmc   +1 more source

Screening for Hereditary Hemochromatosis in Newly Referred Diabetes Mellitus. [PDF]

Am J Med Open, 2023
Lockhart M, Salehmohamed MR, Kumar D, Cummiskey AG, Seong KC, Sreenan S, McDermott J.   +6 more
europepmc   +1 more source