Learn More
BACKGROUND Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented(More)
Pulmonary atresia with intact ventricular septum can be complicated by the presence of large ventriculo-coronary arterial communications which disturb normal myocardial perfusion. In the selection of(More)
Congenital generalized lipodystrophy (CGL) is characterized by the absence of adipose tissue from birth due to a hypothetical differentiation block. The genetic causes of CGL are still not completely(More)