A Quick Guide to Metabolic Disease Testing Interpretation
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9780128169261
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Disorder: Tyrosinemia type 1

2020 ◽  
pp. 121-125
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
Keyword(s):  
Tyrosinemia Type 1

Disorder: Pyruvate dehydrogenase deficiency

2020 ◽  
pp. 187-190
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency

Disorder: Tyrosinemia types 2 and 3

2020 ◽  
pp. 127-130
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja

Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

2020 ◽  
pp. 161-164
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Hydroxyacyl Coa Dehydrogenase

Disorder: Citrullinemia and citrin deficiency

2020 ◽  
pp. 79-83
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
Keyword(s):  
Citrin Deficiency

Disorder: β-Ketothiolase deficiency

2020 ◽  
pp. 97-99
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja

Disorder: 3-Methyglutaconic aciduria

2020 ◽  
pp. 45-49
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
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