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Gilbert syndrome with concomitant hereditary spherocytosis presenting with moderate unconjugated hyperbilirubinemia

Gilbert syndrome with concomitant hereditary spherocytosis presenting with moderate unconjugated hyperbilirubinemia
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound ...
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Rethinking hyperbilirubinemia: Gilbert syndrome in children with cystic fibrosis, a case report. [PDF]

Respir Med Case Rep
Salameh Y, Lyles J, Yousef S.
europepmc   +1 more source

Images in Medicine: Recognizing Hereditary Hemorrhagic Telangiectasia Through Mucocutaneous Findings and Its Management Challenges. [PDF]

Cureus
Khodzandi S, Hossain MR, Moritz E, Kibria M, Mccomas A.   +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

[Hereditary erythrocyte enzymopathies in newborn infants with hyperbilirubinemia].

Boletin medico del Hospital Infantil de Mexico, 1985
A L, Velázquez, N G, Rico, B, Ibarra, R, Blancarte, J, Cardosa, S, Fonseca, E, Maldonado, M A, Enríquez, C, Medina, J M, Cantú   +9 more
openaire   +1 more source

Conjugated Hyperbilirubinemia in Early Infancy: Rethinking Diagnostic Cut-Offs-A Retrospective Analysis. [PDF]

Int J Neonatal Screen
Pfurtscheller D, Ganzer C, Suppan E, Winkler M, Schwaberger B, Sallmon L, Pichler G, Kohlmaier B.   +7 more
europepmc   +1 more source

Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia. [PDF]

Cureus
Jesus Sá C, Vilar Queirós R, Pessoa T, Santos S, Castilho S.   +4 more
europepmc   +1 more source

Association of Hyperbilirubinemia with Lipid Profile and Lipid-Related Diseases: A Large Community-Based Cohort Study. [PDF]

J Clin Med
Yu B, Liu Y, Wu W, Zhou Y, Han D, Chen Y.   +5 more
europepmc   +1 more source

Peripheral T-cell lymphoma in adult-onset familial hemophagocytic lymphohistiocytosis type 2 and heterozygous <i>LRBA</i> mutation. [PDF]

Haematologica
Tembrink M, Haverkamp T, Reinhardt HC, Hanoun M.   +3 more
europepmc   +1 more source

Phototherapy Alone or Combined with Adjuvant Drugs for Neonatal Hyperbilirubinemia: A Systematic Review and Network Meta-Analysis. [PDF]

Children (Basel)
Fei Q, Liu H, Wang X, Yuan T.
europepmc   +1 more source