scholarly journals Cholecysto-appendicostomy as partial internal biliary drainage in Progressive Familial Intrahepatic Cholestasis Type 1: A case report and review of literature

2016 ◽  
Vol 4 ◽  
pp. 17-21 ◽  
Author(s):  
Yee Ian Yik ◽  
Mohd Yusran Othman ◽  
Ruey Terng Ng ◽  
Way Seah Lee
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Biliary Drainage ◽  
Review Of Literature ◽  
Progressive Familial Intrahepatic Cholestasis

scholarly journals An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Giulia Trippella ◽  
Paolo Lionetti ◽  
Sara Naldini ◽  
Francesca Peluso ◽  
Matteo Della Monica ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Syndrome Type ◽  
Review Of Literature ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations

scholarly journals Generalized acquired cutis laxa type 1: a case report and brief review of literature

2016 ◽  
Vol 22 (3) ◽  
Author(s):  
Piyush Kumar ◽  
Sushil S Savant ◽  
Anupam Das
Keyword(s):  
Case Report ◽  
Cutis Laxa ◽  
Review Of Literature

scholarly journals Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

2021 ◽  
Vol 9 (15) ◽  
pp. 3631-3636
Author(s):  
Piotr Czubkowski ◽  
Richard J Thompson ◽  
Irena Jankowska ◽  
A S Knisely ◽  
Milton Finegold ◽  
...  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Farnesoid X Receptor ◽  
Progressive Familial Intrahepatic Cholestasis
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