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Year Number of Results
1993 3
2012 1
2013 2
2017 1
2019 1
2021 1
2024 0

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Page 1
X-Linked Protoporphyria.
Balwani M, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Balwani M, et al. 2013 Feb 14 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Feb 14 [updated 2019 Nov 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23409301 Free Books & Documents. Review.
Congenital Erythropoietic Porphyria.
Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Erwin A, et al. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24027798 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. ...
CLINICAL CHARACTERISTICS: Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosen …
Erythropoietic Protoporphyria, Autosomal Recessive.
Balwani M, Bloomer J, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Balwani M, et al. 2012 Sep 27 [updated 2017 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Sep 27 [updated 2017 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23016163 Free Books & Documents. Review.
Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias. DIAGNOSIS/TESTING: The diagnosis of EPP is established by detection of markedly increased free erythrocyte protoporphyrin and/or by t …
Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyria …