The porphyrias: advances in diagnosis and treatment

Hepatitis C, porphyria cutanea tarda and liver iron: an update

(2012) F. Ryan Caballes et al.   LIVER INTERNATIONAL

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

(2011) J. To-Figueras et al.   BLOOD

Intracellular Rescue of the Uroporphyrinogen III Synthase Activity in Enzymes Carrying the Hotspot Mutation C73R

(2011) Arola Fortian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

(2011) Robert P.E. Sarkany et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis

(2011) Joanna K. Dowman et al.   LIVER TRANSPLANTATION

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(2011) Jeffrey Wickliffe et al.   MOLECULAR MEDICINE

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

(2010) S.D. Whatley et al.   BRITISH JOURNAL OF DERMATOLOGY

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

(2010) Alev Hasanoglu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

(2010) S. Wahlin et al.   JOURNAL OF INTERNAL MEDICINE

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

(2010) EI Minder et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Porphyrias

(2010) Hervé Puy et al.   LANCET

Structure and function of enzymes in heme biosynthesis

(2010) Gunhild Layer et al.   PROTEIN SCIENCE

Acquired erythropoietic protoporphyria

(2009) Daniel Blagojevic et al.   ANNALS OF HEMATOLOGY

AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function

(2009) Makiko Yasuda et al.   MOLECULAR THERAPY

An α-Melanocyte–Stimulating Hormone Analogue in Erythropoietic Protoporphyria

(2009) Juergen Harms et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined liver and kidney transplantation in acute intermittent porphyria

(2009) Staffan Wahlin et al.   TRANSPLANT INTERNATIONAL

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

(2008) Sharon D. Whatley et al.   AMERICAN JOURNAL OF HUMAN GENETICS