FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype

2018 ◽  
Author(s):  
Dominic Lenz ◽  
Patricia Mcclean ◽  
Aydan Kansu ◽  
Penelope Bonnen ◽  
Giusy Ranucci ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Intracellular Trafficking ◽  
Congenital Disorder ◽  
Neurological Phenotype ◽  
Biallelic Mutations

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

2020 ◽  
Vol 63 (8) ◽  
pp. 103952
Author(s):  
Izabel Maryalexandra Rios-Flores ◽  
Miguel Ángel Bonal-Pérez ◽  
Abril Castellanos-González ◽  
Ezequiel Velez-Gómez ◽  
Aida M. Bertoli-Avella ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Male Patient ◽  
Congenital Disorder

scholarly journals Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

2015 ◽  
Vol 97 (1) ◽  
pp. 163-169 ◽  
Author(s):  
Tobias B. Haack ◽  
Christian Staufner ◽  
Marlies G. Köpke ◽  
Beate K. Straub ◽  
Stefan Kölker ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Biallelic Mutations

Prognostic Value of Transient Elastography for the Outcome of Acute Liver Failure

2009 ◽  
Vol 47 (01) ◽  
Author(s):  
A Dechêne ◽  
C Jochum ◽  
A El Fouly ◽  
M Schlattjan ◽  
R Gieseler ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Prognostic Value ◽  
Transient Elastography
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