scholarly journals Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

2017 ◽  
Vol 3 (6) ◽  
pp. a002147 ◽  
Author(s):  
Mersedeh Rohanizadegan ◽  
Sara M. Abdo ◽  
Anne O'Donnell-Luria ◽  
Ivana Mihalek ◽  
Peggy Chen ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Exome Sequencing ◽  
Disease Type ◽  
Fetal Hydrops ◽  
Niemann Pick Disease ◽  
Whole Exome ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

2019 ◽  
Vol 41 (5) ◽  
pp. 460-464 ◽  
Author(s):  
Tadayuki Kumagai ◽  
Hiroshi Terashima ◽  
Hajime Uchida ◽  
Akinari Fukuda ◽  
Mureo Kasahara ◽  
...  
Keyword(s):  
Liver Failure ◽  
Disease Type ◽  
Neonatal Hemochromatosis ◽  
Niemann Pick Disease ◽  
Neonatal Liver ◽  
Neonatal Liver Failure ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C

2013 ◽  
Vol 110 (1-2) ◽  
pp. 139-144 ◽  
Author(s):  
Afagh Alavi ◽  
Shahriar Nafissi ◽  
Hosein Shamshiri ◽  
Maryam Malakooti Nejad ◽  
Elahe Elahi
Keyword(s):  
Exome Sequencing ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

2018 ◽  
pp. 47-51 ◽  
Author(s):  
William A. Zeiger ◽  
Nasheed I. Jamal ◽  
Maren T. Scheuner ◽  
Patricia Pittman ◽  
Kimiyo M. Raymond ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease ◽  
Probable Diagnosis

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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