Crigler‐Najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier,Hepatology

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Crigler‐Najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier
Hepatology ( IF 12.9 ) Pub Date : 2020-02-05 , DOI: 10.1002/hep.30959
Kevin A Strauss _{1,

2,

3} , Charles E Ahlfors ₄ , Kyle Soltys ₅ , George V Mazareigos ₅ , Millie Young ₁ , Lauren E Bowser ₁ , Michael D Fox _{1,

6,

7} , James E Squires ₈ , Patrick McKiernan ₉ , Karlla W Brigatti ₁ , Erik G Puffenberger ₁ , Vincent J Carson ₁ , Hendrik J Vreman ₁₀

Affiliation

Clinic for Special Children, Strasburg, PA.
Penn-Lancaster General Hospital, Lancaster, PA.
Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA.
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
Department of Surgery, Division of Pediatric Transplantation, Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.
Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA.
Diagnostic Referral Division, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
Division of Gastroenterology and Hepatology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.
Division of Pediatric Gastroenterology, Hepatology and Nutrition, UPMC Children's Hospital of Pittsburgh and Pittsburgh Liver Research Center, Pittsburgh, PA.
Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.

We describe the pathophysiology, treatment, and outcome of Crigler‐Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient‐years.

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