Results 11 to 20 of about 5,947 (218)
Life-Long Hyperbilirubinemia Exposure and Bilirubin Priming Prevent In Vitro Metabolic Damage
Frontiers in Pharmacology, 2021 Background: Unconjugated bilirubin (UCB) is more than the final product of heme catabolism. Mildly elevated systemic bilirubin concentrations, such as in Gilbert syndrome (GS), protect against various oxidative stress-mediated and metabolic diseases ...
Annalisa Bianco +5 more
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Association of hereditary elliptocytosis and Gilbert’s syndrome as the cause of biliary calculosis: Case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Biliary calculosis is rare in children. It occurs associated with different haemolytic and non-haemolytic disorders, which are sometimes also combined. Case Outline.
Radlović Nedeljko +8 more
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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 +4 more
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Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
PLoS ONE, 2015 Crigler-Najjar Syndrome type II (CNS-II) is an autosomal recessive hereditary condition of unconjugated hyperbilirubinemia without hemolysis, with bilirubin levels ranging from 102.6 μmol/L to 342 μmol/L.
Lufeng Li +3 more
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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 +7 more
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Journal of Medical Case ReportsBackground Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis ...
Sintayehu Mekonnen +7 more
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Hepatocellular Bile Salt Transport: Lessons from Cholestasis [PDF]
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 +2 more
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Pediatric Hematology Oncology JournalBackground: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell ...
Emmalee M. Kugler +4 more
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Multiorgan Dysfunction and Associated Prognosis in Transthyretin Cardiac Amyloidosis [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Transthyretin cardiac amyloidosis (ATTR‐CA) is a progressive and ultimately fatal cardiomyopathy. Biomarkers reflecting multiorgan dysfunction are of increasing importance in patients with heart failure; however, their significance in ATTR‐CA ...
Adam Ioannou +20 more
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