Results 201 to 210 of about 114,297 (258)

Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1. [PDF]

Case Rep Hematol
Zablonski KG, Lachant NA, Perkins A, Archibald WJ.   +3 more
europepmc   +1 more source

Optimal Corticosteroid Therapy Based on Liver Biopsy for Severe Immune-Mediated Hepatitis During Pembrolizumab Treatment: A Case Report. [PDF]

Cureus
Esaki K, Horikoshi H, Awashima M, Nakayama S, Kichikawa Y.   +4 more
europepmc   +1 more source

Case Report: Identification of a novel pathogenic <i>UGT1A1</i> mutation in a Chinese patient with Gilbert syndrome. [PDF]

Front Med (Lausanne)
Zhao C, Huang H.
europepmc   +1 more source

An Unexpected Cause of Extreme Hyperbilirubinemia and Acute Renal Failure: A Case of Weil's Disease in Poland. [PDF]

Cureus
Drupka M, Pol K, Holubiuk L, Walecik-Kot W.   +3 more
europepmc   +1 more source

An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome

Journal of Pediatric Hematology/Oncology, 2018
Hereditary spherocytosis is the most frequent congenital hemolytic anemia and is characterized with variable degree of anemia, jaundice, and splenomegaly. In the case of severe hyperbilirubinemia out of proportion with hemolysis, other causes of hyperbilirubinemia must be considered. Gilbert syndrome (GS) is an autosomal dominant disorder characterized
Butorac Ahel, Ivona, Baraba Dekanić, Kristina, Palčevski, Goran, Roganović, Jelena   +3 more
openaire   +4 more sources

Exchange Transfusion via Peripheral Access for Neonate With Hyperbilirubinemia and Hereditary Spherocytosis in the NICU

Advances in Neonatal Care
Background: Severe neonatal unconjugated hyperbilirubinemia is associated with the risk of neurotoxicity and hence warrants prompt diagnostic and therapeutic interventions, including phototherapy and exchange transfusions.
Chandler, Williams, Valentyna, Tack, Sudeepta, Basu, Emily, Rosenstein   +3 more
openaire   +3 more sources

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Hereditary Spherocytosis in Neonates With Hyperbilirubinemia

Pediatrics, 2010
OBJECTIVES: Hereditary spherocytosis (HS) is the most common inherited hemolytic disease among people of Northern European decent. Neonates with HS can develop significant hyperbilirubinemia, but we suspect that HS is underrecognized as a cause of neonatal jaundice.METHODS: We used electronic record repositories of Intermountain Healthcare to identify ...
Robert D, Christensen, Erick, Henry
openaire   +3 more sources

HEREDITARY HYPERBILIRUBINEMIA: REPORT OF A CASE

Annals of Internal Medicine, 1955
Excerpt Frequently the recognition of a hereditary metabolic defect is of considerable significance to the physician and to the patient.
J J, WALSH, R L, GRIFFITH
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[Diagnostic porphyrinopathies in hereditary hyperbilirubinemia].

Zeitschrift fur Gastroenterologie, 1995
Secondary porphyrinopathias were investigated in hereditary hyperbilirubinemias of the types Dubin-Johnson syndrome (DJS), Rotor's syndrome (RS), Gilbert's syndrome (GS) and compared with the findings in alcohol-induced cholestasis. The determination of urinary coproporphyrin excretion including its isomer I and III relation allows to diagnose and ...
M, Frank, M O, Doss
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Relevance of urinary coproporphyrin isomers in hereditary hyperbilirubinemias

Clinical Biochemistry, 1989
Porphyrin metabolism is impaired in Dubin-Johnson syndrome (DJS), Rotor's syndrome (RS), and Gilbert's syndrome (GS). Urinary coproporphyrin (CP) isomer I is increased in these hereditary hyperbilirubinemias to different degrees: in DJS to 85%, in RS to 70%, and in GS to 50% in the homozygous state (p less than 0.001 compared to controls with isomer I ...
M, Frank, M O, Doss
openaire   +2 more sources