Syndrome Diagnosis

3C Syndrome – Definition, Diagnosis, and Pathophysiology

What is 3c syndrome? What is the definition of 3c syndrome? How is a 3c syndrome usually diagnosed? What is…

September 16, 2017

3 Beta Hydroxysteroid Dehydrogenase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 3 beta hydroxysteroid dehydrogenase deficiency? What is definition of 3 beta hydroxysteroid dehydrogenase deficiency? How is a 3…

September 16, 2017

2-Hydroxyethyl Methacrylate Sensitization – Definition, Diagnosis, and Pathophysiology

What is 2-hydroxyethyl methacrylate sensitization? What is the definition of 2-hydroxyethyl methacrylate sensitization? How is a 2-hydroxyethyl methacrylate sensitization usually…

September 16, 2017

3 Methylglutaconyl CoA Hydratase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 3 methylglutaconyl CoA hydratase deficiency? What is the definition of 3 methylglutaconyl CoA hydratase deficiency? How is a…

September 16, 2017

22q11.2 Deletion Syndrome – Definition, Diagnosis, and Pathophysiology

What is 22q11.2 deletion syndrome? What is the definition of 22q11.2 deletion syndrome? How is a 22q11.2 deletion syndrome usually…

September 16, 2017

3 Methylcrotonic Aciduria – Definition, Diagnosis, and Pathophysiology

What is 3 methylcrotonic aciduria? What is the definition of 3 methylcrotonic aciduria? How is a 3 methylcrotonic aciduria usually…

September 16, 2017

21-Hydroxylase Deficiency – Definition, Diagnosis, and Pathophysiology

What is 21-hydroxylase deficiency? What is the definition of 21-hydroxylase deficiency? How is a 21-hydroxylase deficiency usually diagnosed? What is…

September 16, 2017

3 MCC Deficiency – Definition, Diagnosis, and Pathophysiology

What is 3 MCC deficiency? What is the definition of 3 MCC deficiency? How is a 3 MCC deficiency usually…

September 16, 2017

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

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

September 15, 2017

1p36 Deletion Syndrome – Definition, Diagnosis, and Pathophysiology

What is 1p36 deletion syndrome? What is the definition of 1p36 deletion syndrome? How is an 1p36 deletion syndrome usually…

September 15, 2017