Erythropoietic Protoporphyria
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Last Posted: Jul 10, 2024
- When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.
Sara Rovaris, et al. Dermatology reports 2024 0 (2) 9784 - Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
Gou Eric, et al. The journal of applied laboratory medicine 2021 0 (2) 213-221 - Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Brancaleoni Valentina, et al. Molecular genetics and metabolism 2018 0 (4) 287-296 - Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey Amy K, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 0 (1) 140-148 - ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
Alagappan Uma, et al. International journal of dermatology 2017 3 (3) 272-276 - Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.
Chiara Matteo, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 7 - Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami Nathalie, et al. American journal of human genetics 2016 6 - A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag M S, et al. Folia biologica 2015 0 (6) 227-32
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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