Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
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چکیده
منابع مشابه
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...
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ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2020
ISSN: 1471-2431
DOI: 10.1186/s12887-020-02201-x