JIMD Reports - JIMD Reports, Volume 40
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Published By Springer Berlin Heidelberg

9783662578797, 9783662578803
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scholarly journals Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

2017 ◽  
pp. 17-22 ◽  
Author(s):  
Farrah Rajabi ◽  
Lance H. Rodan ◽  
Maureen M. Jonas ◽  
Janet S. Soul ◽  
Nicole J. Ullrich ◽  
...  
Keyword(s):  
Liver Failure ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency

scholarly journals Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

2017 ◽  
pp. 47-53 ◽  
Author(s):  
Abdulrahman Obaid ◽  
Marwan Nashabat ◽  
Majid Alfadhel ◽  
Ali Alasmari ◽  
Fuad Al Mutairi ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Features ◽  
Chain Acyl ◽  
Long Chain ◽  
Saudi Patients

scholarly journals Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

2017 ◽  
pp. 63-69 ◽  
Author(s):  
Erin Conboy ◽  
Filippo Vairo ◽  
Matthew Schultz ◽  
Katherine Agre ◽  
Ross Ridsdale ◽  
...  
Keyword(s):  
Clinical Features ◽  
Laboratory Values
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