From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

(2016) Brenden Chen et al.   HUMAN MUTATION

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

(2015) Nicolas Pallet et al.   KIDNEY INTERNATIONAL

Porphyrias: A 2015 update

(2015) Zoubida Karim et al.   Clinics and Research in Hepatology and Gastroenterology

Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up

(2012) Mary Felicity Stewart   JOURNAL OF CLINICAL PATHOLOGY

The incidence of inherited porphyrias in Europe

(2012) George Elder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa

(2011) J.-C. Deybach et al.   JOURNAL OF INTERNAL MEDICINE

Porphyrias

(2010) Hervé Puy et al.   LANCET

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Structure of human porphobilinogen deaminase at 2.8 Å: the molecular basis of acute intermittent porphyria

(2009) Raj Gill et al.   BIOCHEMICAL JOURNAL