Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma-Reference-Cited by-同舟云学术

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Published:2016-08-08 Issue:10 Volume:37 Page:1097-1105
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Blackburn Patrick R.¹,Hickey Raymond D.¹,Nace Rebecca A.¹,Giama Nasra H.¹,Kraft Daniel L.¹,Bordner Andrew J.²,Chaiteerakij Roongruedee¹³,McCormick Jennifer B.¹,Radulovic Maja¹,Graham Rondell P.¹,Torbenson Michael S.¹,Tortorelli Silvia¹,Scott C. Ronald⁴,Lindor Noralane M.⁵,Milliner Dawn S.¹,Oglesbee Devin¹,Al‐Qabandi Wafa'a⁶,Grompe Markus⁷,Gavrilov Dimitar K.¹,El‐Youssef Mounif¹,Clark Karl J.¹,Atwal Paldeep S.⁸,Roberts Lewis R.¹,Klee Eric W.¹,Ekker Stephen C.¹

Affiliation:

1. Center for Individualized Medicine, Mayo Clinic Rochester Minnesota

2. Palo Alto Medical Foundation Mountain View California

3. Chulalongkorn University and King Chulalongkorn Memorial Hospital Bangkok Pathumwan

4. Department of Pediatrics, Division of Genetic Medicine University of Washington Seattle Washington

5. Department of Health Science Research Mayo Clinic Scottsdale Arizona

6. Deptartment of Pediatrics, Faculty of Medicine University of Kuwait 24923 Safat Kuwait City Kuwait

7. Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Science & Health University Portland Oregon

8. Center for Individualized Medicine, Mayo Clinic Jacksonville Florida

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23047

Reference20 articles.

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2. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

3. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

4. Preferential delivery of the Sleeping Beauty transposon system to livers of mice by hydrodynamic injection

5. Large-scale prediction of protein geometry and stability changes for arbitrary single point mutations

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