Results 101 to 110 of about 5,947 (218)

Phenotypic and genotypic evaluation of a large Manitoban kindred with hereditary xerocytosis

, 2012
The hereditary stomatocytoses are a group of heterogeneous conditions associated with chronic red cell haemolysis for which the causative genetic mutations are not known. We investigated 137 members of a large Manitoban kindred with phenotypic findings
Houston, Brett
core  

Liver Fibrosis Associated With Crigler–Najjar Syndrome in a Compound Heterozygote: A Case Report

, 2017
Crigler–Najjar syndrome is a hereditary unconjugated hyperbilirubinemia. Two forms of the disease are recognized. Type I is more severe and results in kernicterus if left untreated, and Type II is less severe and responds to phenobarbital. While Crigler–
Cynthia R Fata, M Cristina Pacheco, Lynette A Gillis   +2 more
core   +1 more source

The relevance of reticulocytosis in the classification of hereditary spherocytosis: case report

, 2018
A Esferocitose Hereditária é uma doença hemolítica de origem genética polissômica, podendo ser autossômica dominante ou recessiva. Seu quando clínico é representado por anemia, reticulocitose, hiperbilirrubinemia indireta e presença de numerosos ...
Santos, Amanda da Silva, Sousa, Mariana Lacorte Vaz de, Caputo, Lucélia Rita Gaudino, Trindade, Sarah Lorrany Ferreira, Souza, Nicolli Belotti de, Brito, Josué da Silva, Gondim, Halynne Maria Marques   +6 more
core   +1 more source

Dubin-Johnson syndrome

, 2008
A young man presented with recurrent episodes of mild jaundice. Apart from conjugated hyperbilirubinemia, other liver function tests were always normal. Clinical suspicion of Dubin-Johnson syndrome was raised.
Nisa, Aziz-un, Ahmad, Zubair
core   +1 more source

Síndrome Lucey-Driscoll - reporte de caso

, 2017
Unconjugated hyperbilirubinemia i s produced by alteration in conjugation and excretion process of bilirubin. Glucoronosiltransferasa Uridine diphosphate enzyme i s involved in bilirubin conjugation. Is encoded by the UGTlAl gene located in chromosome 2q
Cardona, Juan Sergio, Porras Hurtado, Gloria Liliana   +1 more
core   +1 more source

Eponym: Gilbert syndrome

, 2012
Gilbert syndrome is a common autosomal dominant hereditary condition with incomplete penetrance and characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis.
Karpathios, T., Liapi, O., Fretzayas, A., Moustaki, M.   +3 more
core  

Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: A case report

The Turkish Journal of Gastroenterology, 2011
Uğur KORKMAZ, Ali Erkan DUMAN, Deniz ÖĞÜTMEN KOÇ, Yeşim Gürbüz, Gökhan Dindar, Fatih ENSAROĞLU, Selçuk Yusuf ŞENER, Ömer ŞENTÜRK, Sadettin HÜLAGÜ   +8 more
doaj   +1 more source

Anemia diseritropoyética congénita tipo 1.Presentación de un caso Type 1 congenital dyserytropoieitc anemia: A case presentation

Revista Cubana de Hematología, Inmunología y Hemoterapia, 2010
Las anemias diseritropoyéticas congénitas (ADC) son un grupo de trastornos heridatarios de la hematopoyesis caracterizados por anemia refractaria de severidad variable. Se distinguen 3 tipos fundamentales: 1, 2 y 3. El gen responsable de la ADC-1 (CDAN1)
Adys I. Gutiérrez Díaz, Luis G. Ramón Rodríguez, Daycee Breña Escobar, Juan C. Jaime Facundo, Jesús Serrano Mirabal, Alberto Arencibia Núñez, Marlen Domínguez Toirac, Sergio Machín García, Andrea Menéndez Veitía, Alejandro González Otero, Eva Svarch   +10 more
doaj  

АПОСТЕРИОРНАЯ ЦЕННОСТЬ КЛИНИЧЕСКИХ И ЛАБОРАТОРНЫХ ПРОЯВЛЕНИЙ СИНДРОМА ЖИЛЬБЕРА У ДЕТЕЙ

, 2015
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.
З.В. Калоева, N.V. Molotkova, I.N. Zakharova, И.Н. Захарова, Н.В. Молоткова, L.A. Kataeva, М.И. Пыков, И.В. Бережная, Е.В. Резниченко, S.V. Shishkina, E.V. Reznichenko, С.В. Шишкина, M.I. Pykov, Л.А. Катаева, Z.V. Kaloeva, I.V. Berezhnaya   +15 more
core  

A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1

Journal of Inflammation Research
Yang Gou,1,2 Ping Wang,1,2 Wucheng Yang,1,2 Yimei Feng,1,2 Xiangui Peng,1,2 Hong Liu,1,2 Shuiqing Liu,1,2 Xi Zhang1,2 1Medical Center of Hematology, Xinqiao Hospital of Army Medical University, Chongqing, 400037, People’s Republic of China; 2Chongqing ...
Gou Y, Wang P, Yang W, Feng Y, Peng X, Liu H, Liu S, Zhang X   +7 more
doaj