A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.

Ghirri, Paolo

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. [electronic resource] - Pediatrics international : official journal of the Japan Pediatric Society Aug 2011 - 583-7 p. digital

Publication Type: Case Reports; Journal Article

1442-200X

10.1111/j.1442-200X.2010.03255.x doi


17-Hydroxysteroid Dehydrogenases--deficiency
Fatal Outcome
Female
Humans
Hydro-Lyases--deficiency
Infant, Newborn
Peroxisomal Disorders--diagnosis
Peroxisomal Multifunctional Protein-2