ACUTE INTERMITTENT PORPHYRIA Lisa S. Parker, MD

ACUTE INTERMITTENT PORPHYRIA

Lisa S. Parker, MD

Volume 2530, No 8, pp. 4391-4455, January 22, 2008


Acute intermittent porphyria is an autosomal dominant disorder that results from an approximately 50% deficiency of PBG deaminase. The enzyme is deficient in all individuals who inherit the mutant gene and remains fairly constant over time. The majority of subjects with PBG deaminase deficiency remain asymptomatic.

http://www.medical-library.org/journals/secure/01110/acute_intermittent_porphyria.htm

اسم المستخدم: 1929
كلمة السر:1929