Results 21 to 30 of about 114,297 (258)

SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) [PDF]

, 2020
Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian
González-Santiago, S, Llort, G, Aguirre, E, Graña Suárez, Begoña, González-del-Alba, A., González-Santiago, S., Alés-Martínez, J.E., Graña, B., Alés-Martínez, J E, Herrero, A, Llort, G., Ramón y Cajal, T., the, SEOM, Hereditary, Cancer, Working, Group, Ramón Y Cajal, T, Andrés, R, Balmaña, J., Aguirre, E., González-Del-Alba, A, Andrés, R., Balmaña, J, Herrero, A.   +20 more
core   +2 more sources

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

Diagnostics, 2021
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities.
Valeria Cortesi, Francesca Manzoni, Genny Raffaeli, Giacomo Cavallaro, Bruno Fattizzo, Giacomo Simeone Amelio, Silvia Gulden, Ilaria Amodeo, Juri Alessandro Giannotta, Fabio Mosca, Stefano Ghirardello   +10 more
doaj   +1 more source

Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia. [PDF]

Journal of Clinical Investigation, 1989
TR- mutant rats have an autosomal recessive mutation that is expressed as a severely impaired hepatobiliary secretion of organic anions like bilirubin-(di)glucuronide and dibromosulphthalein (DBSP). In this paper, the hepatobiliary transport of glutathione and a glutathione conjugate was studied in normal Wistar rats and TR- rats.
Elferink, R. P., Ottenhoff, R., Liefting, W., de Haan, J., Jansen, P. L.   +4 more
openaire   +2 more sources

WAO guideline for the management of hereditary angioedema [PDF]

, 2012
Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers.
Ruby Pawankar, Richard Lockey, Magerl, Markus, Bowen, Tom, Lumry, William, Pawankar, Ruby, Craig, Timothy P., Craig, Timothy, Emel Aygören Pürsün, Anete Grumach, Bork, Konrad, Ritchie, Bruce, Katelaris, Constance H. (R12307), Bruce Zuraw, Alexander Nast, Farkas, Henrietta, Farkas, Henriette, Longhurst, Hilary, Martinez-Saguer, Immaculada, Nast, Alexander, Marcus Maurer, Henriette Farkas, Markus Magerl, Lockey, Richard, William Lumry, Tom Bowen, Zuraw, Bruce, Boysen, Henrik B., Martinez Saguer, Inmaculada, Konrad Bork, Grumach, Anete, Katelaris, Constance H., Hilary Longhurst, Aygören-Pürsün, Emel, Maurer, Marcus, Immaculada Martinez-Saguer, Bruce Ritchie, Henrik Boysen, Constance H. Katelaris, Timothy Craig   +39 more
core   +1 more source

Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn

Case Reports in Hematology, 2019
A term male newborn born to a mother who had hereditary spherocytosis presented with neonatal jaundice at 20 hours of life. Complete blood count showed hemoglobin 17.1 g/dL, MCV 104.2 fL, MCH 32.9 pg, and MCHC 31.6 g/dL.
Kanda Fanhchaksai, Suphara Manowong, Rungrote Natesirinilkul, Lalita Sathitsamitphong, Pimlak Charoenkwan   +4 more
doaj   +1 more source

The Gabriel-Roiter measure for representation-finite hereditary algebras [PDF]

, 2006
Chen B. The Gabriel-Roiter measure for representation-finite hereditary algebras.
Chen, Bo
core   +1 more source

GILBERT’S SYNDROME IN CHILDREN: CONTEMPORARY DIAGNOSTIC POTENTIALITIES

Педиатрическая фармакология, 2011
Gilbert’s syndrome is a benign indirect hyperbilirubinemia of the hereditary nature, caused by deficiency of the enzyme uridindiphosphatglucuronitransferase. UGT1A1 gene is localized on chromosome 2q37.
I.N. Zakharova, M.I. Pykov, Z.V. Kaloeva, L.A. Kataeva, S.V. Shishkina, I.V. Berezhnaya, E.V. Reznichenko, N.V. Molotkova   +7 more
doaj   +2 more sources

Hepatocellular Bile Salt Transport: Lessons from Cholestasis

Canadian Journal of Gastroenterology, 2000
Hepatic uptake and excretion of bile salts and several nonbile salt organic anions (eg, bilirubin) are mediated by a distinct set of polarized transport systems at the basolateral and apical plasma membrane domains of hepatocytes and bile duct epithelial
Michael Trauner, Peter Fickert, Rudolf E Stauber   +2 more
doaj   +1 more source

CLINICAL AND LABORATORY EVALUATION OF OUR PATIENTS WITH HEREDITARY SPHEROCYTOSIS

Hematology, Transfusion and Cell Therapy, 2021
Objective: Hereditary spherocytosis (HS) is a non-immune hemolytic anemia occurring with anemia, jaundice, splenomegaly symptoms in which  the cell membrane of the erythrocytes is transformed into the shape of spherocytes due to congenital membrane ...
Senanur Şanlı Çelik, Zeynep Yıldız Yıldırmak, Dildar Bahar Genç   +2 more
doaj   +1 more source

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report

BMC Pediatrics, 2022
Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA).
Yumei Zu, Hui Wang, Weijia Lin, Chaochun Zou   +3 more
doaj   +1 more source