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Erythropoietic porphyria

MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
SNOMED CT: Erythropoietic porphyria (67312003)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythropoietic porphyria

Professional guidelines

PubMed

Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC
Clin Pediatr (Phila) 2023 Jun;62(5):399-403. Epub 2022 Oct 11 doi: 10.1177/00099228221128661. PMID: 36217751Free PMC Article
Jiang AJ, Lim HW
Dermatol Clin 2020 Jan;38(1):71-77. Epub 2019 Oct 18 doi: 10.1016/j.det.2019.08.007. PMID: 31753194
Kauppinen R, Timonen K, Mustajoki P
Ann Med 1994 Feb;26(1):31-8. doi: 10.3109/07853899409147324. PMID: 7909442

Recent clinical studies

Etiology

Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Diagnosis

To-Figueras J, Erwin AL, Aguilera P, Millet O, Desnick RJ
Liver Int 2024 Aug;44(8):1842-1855. Epub 2024 May 8 doi: 10.1111/liv.15958. PMID: 38717058
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Therapy

Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Baker CS
Med J Aust 1996 Jul 15;165(2):96-101. doi: 10.5694/j.1326-5377.1996.tb138653.x. PMID: 8692072
Todd DJ
Br J Dermatol 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. PMID: 7857832
Nordmann Y, Deybach JC
Semin Liver Dis 1982 May;2(2):154-63. doi: 10.1055/s-2008-1040705. PMID: 6753165

Prognosis

Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH
Semin Liver Dis 1998;18(1):77-84. doi: 10.1055/s-2007-1007143. PMID: 9516681
Nordmann Y, Deybach JC
Semin Liver Dis 1982 May;2(2):154-63. doi: 10.1055/s-2008-1040705. PMID: 6753165
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Supplemental Content

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    Practice guidelines

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