Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases that affect the production of heme, a component of red blood cells. It can cause life threatening complications. AHP can cause ...
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Acute intermittent porphyria (AIP) is an inborn error of metabolism inherited via a fully identified autosomal dominant gene. The porphyrias, a group of diseases ...
Please provide your email address to receive an email when new articles are posted on . In her session, Dickey, an assistant professor at Massachusetts General Hospital, looked at a form of porphyria ...
Acute intermittent porphyria (AIP) is a rare condition that causes an enzyme deficiency. This can cause a person to experience abdominal pain, nausea, vomiting, and seizures. Porphyrias are rare ...
– The Alnylam Act ® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases – – Through the Alnylam Act ...
An acute AIP attack may have numerous clinical manifestations. Abdominal pain is not only the most common symptom, but also is often the first sign of an acute attack. [3] Other common symptoms ...
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterised by a deficiency of uroporphyrinogen III synthase (UROS), a pivotal enzyme in the haem biosynthetic ...
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