Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene

Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene

(2015) M. Mizawa et al.   BRITISH JOURNAL OF DERMATOLOGY

Afamelanotide for Erythropoietic Protoporphyria

(2015) Janneke G. Langendonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Porphyrias: A 2015 update

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

A case of late onset erythropoietic protoporphyria associated with myelodysplastic syndrome treated by the combination of beta carotene and azacitidine

(2013) Yoshitaka Nishikawa et al.   ANNALS OF HEMATOLOGY

Narrowband ultraviolet B phototherapy in erythropoietic protoporphyria: case series

(2013) M. Sivaramakrishnan et al.   BRITISH JOURNAL OF DERMATOLOGY

Photosensitivity in the Elderly—Think of Late-Onset Protoporphyria

(2013) Jorge Frank et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The porphyrias: advances in diagnosis and treatment

(2012) M. Balwani et al.   BLOOD

Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly

(2012) Cristina Bulai Livideanu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria

(2010) Tsuyoshi Tahara et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY