Deficiency Diagnosis

2-Methylacetoacetyl CoA Thiolase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 2-methylacetoacetyl CoA thiolase deficiency? What is the definition of 2-methylacetoacetyl CoA thiolase deficiency? How is a 2-methylacetoacetyl CoA…

September 16, 2017

3 Alpha Methylcrotonyl-CoA Carboxylase 1 Deficiency – Definition, Diagnosis, and Pathophysiology

What is 3 alpha methylcrotonyl-CoA carboxylase 1 deficiency? What is the definition of 3 alpha methylcrotonyl-CoA carboxylase 1 deficiency? How…

September 16, 2017

11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency – Definition, Diagnosis, and Pathophysiology

What is 11 beta hydroxysteroid dehydrogenase type 2 deficiency? What is the definition of 11 beta hydroxysteroid dehydrogenase type 2…

September 15, 2017

18-Hydroxylase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 18-hydroxylase deficiency? What is the definition of 18-hydroxylase deficiency? How is an 18-hydroxylase deficiency usually diagnosed? What is…

September 15, 2017

11 Beta Hydroxylase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 11 beta hydroxylase deficiency? What is the definition of 11 beta hydroxylase deficiency? How is a 11 beta…

September 15, 2017

17-Beta Hydroxysteroid Dehydrogenase III Deficiency – Definition, Diagnosis, and Pathophysiology

What is 17-beta hydroxysteroid dehydrogenase iii deficiency? What is the definition of 17-beta hydroxysteroid dehydrogenase iii deficiency? How is a…

September 15, 2017