Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 3
1980 1
1981 1
1982 1
1984 3
1985 2
1986 3
1987 3
1988 2
1989 1
1990 2
1991 1
1992 9
1993 22
1994 18
1995 24
1996 21
1997 7
1998 24
1999 24
2000 22
2001 8
2002 16
2003 11
2004 12
2006 2
2007 3
2008 2
2009 3
2010 3
2011 1
2012 1
2013 3
2014 4
2015 2
2016 1
2018 1
2019 2
2022 1
2024 1
2025 2
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

271 results

Results by year

Filters applied: . Clear all
Page 1
Hepatoerythropoietic Porphyria.
Rudnick S, Phillips J, Bonkovsky H; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Rudnick S, et al. 2013 Oct 31 [updated 2022 Dec 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2013 Oct 31 [updated 2022 Dec 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 24175354 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. ...Phlebotomy and chloroquine, which are usually effective in treating the allelic disorder familia …
CLINICAL CHARACTERISTICS: Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, an …
Hepatoerythropoietic porphyria.
Bundino S, Topi GC, Zina AM, D'Allessandro Gandolfo L. Bundino S, et al. Pediatr Dermatol. 1987 Nov;4(3):229-33. doi: 10.1111/j.1525-1470.1987.tb00784.x. Pediatr Dermatol. 1987. PMID: 3422855
A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. Biochemically elevated levels of protoporphyrins in erythrocytes, uroporphyrins in urine, and coproporphyrins …
A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild …
Hepatoerythropoietic porphyria.
Czarnecki DB. Czarnecki DB. Arch Dermatol. 1980 Mar;116(3):307-11. Arch Dermatol. 1980. PMID: 7369748
In a case of hepatoerythropoietic porphyria (HEP) with unusual features, the patient had onset of photosensitivity in infancy, followed by spontaneous resolution of photosensitivity by the age of 7 years. ...Certain clinical and biochemical features distinguish HEP …
In a case of hepatoerythropoietic porphyria (HEP) with unusual features, the patient had onset of photosensitivity in infancy, …
[Hepatoerythropoietic porphyria].
Kondo M, Yano Y. Kondo M, et al. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):149-51. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645029 Review. Japanese. No abstract available.
Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda.
Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, Enríquez de Salamanca R. Castaño Suárez E, et al. Dermatology. 1996;193(4):332-5. doi: 10.1159/000246284. Dermatology. 1996. PMID: 8993961 Review.
Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. ...W …
Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary …
Hepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report.
Kaya Ç, Heydari A, Kızılay O, Kızılay O, Sezgin G. Kaya Ç, et al. Eur J Case Rep Intern Med. 2025 Jan 25;12(3):005198. doi: 10.12890/2025_005198. eCollection 2025. Eur J Case Rep Intern Med. 2025. PMID: 40051752 Free PMC article.
INTRODUCTION: Hepatoerythropoietic porphyria (HEP) is an uncommon autosomal recessive disorder marked by deficiencies in enzymes involved in heme biosynthesis. ...LEARNING POINTS: This is a first report of hepatoerythropoietic porphyria with coexisting …
INTRODUCTION: Hepatoerythropoietic porphyria (HEP) is an uncommon autosomal recessive disorder marked by deficiencies in enzym …
Porphyria in childhood.
Jensen JD, Resnick SD. Jensen JD, et al. Semin Dermatol. 1995 Mar;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9. Semin Dermatol. 1995. PMID: 7742238 Review.
Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of the cutaneous porphyrias, erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria …
Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of t …
Porphyria Cutanea Tarda.
Sathe NC, Killeen RB, Bhatt H. Sathe NC, et al. 2026 Apr 15. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2026 Apr 15. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 33085356 Free Books & Documents.
Porphyrias manifest with neurovisceral symptoms, cutaneous symptoms, or a combination of both. Porphyria cutanea tarda (PCT), the most common porphyria, is the result of a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). ...Failure of this process res …
Porphyrias manifest with neurovisceral symptoms, cutaneous symptoms, or a combination of both. Porphyria cutanea tarda (PCT), the mos …
[Porphyria cutanea tarda and hepatoerythropoietic porphyria].
Nonaka S, Takamiyagi A. Nonaka S, et al. Nihon Rinsho. 1995 Jun;53(6):1427-32. Nihon Rinsho. 1995. PMID: 7616658 Review. Japanese.
Porphyria cutanea tarda (PCT) is induced by an enzyme deficiency of hepatic uroporphyrinogen decarboxylase activity. ...PAS positive materials are also prominent around the small blood vessels in the dermis and dermo-epidermal junctions. Hepatoerythropoietic porp …
Porphyria cutanea tarda (PCT) is induced by an enzyme deficiency of hepatic uroporphyrinogen decarboxylase activity. ...PAS positive …
Hepatoerythropoietic porphyria: neuroimaging findings.
Berenguer J, Blasco J, Cardenal C, Pujol T, Cruces Prado MJ, Herrero C, Mascaró JM, de la Torre C, Mercader JM. Berenguer J, et al. AJNR Am J Neuroradiol. 1997 Sep;18(8):1557-60. AJNR Am J Neuroradiol. 1997. PMID: 9296199 Free PMC article.
CT and MR findings in two patients with hepatoerythropoietic porphyria are presented. CT scans showed atrophy and cortical mineralization at the same level. ...
CT and MR findings in two patients with hepatoerythropoietic porphyria are presented. CT scans showed atrophy and cortical min …
271 results