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Found 26 publications

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.

Using the Zebrafish as a Genetic Model to Study Erythropoiesis.

ABDOMINAL PAIN AND SEIZURES - A COLORFUL TURN OF EVENTS.

New therapeutic option for acute hepatic porphyrias.

Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.

Unexpected presentation of acute porphyria.

Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?

Development of siRNA Therapeutics for the Treatment of Liver Diseases.

Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.

Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report.

Showing 1-12 of 26