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Page 1
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE. Ramanujam VS, et al. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. Curr Protoc Hum Genet. 2015. PMID: 26132003 Free PMC article. Review.
Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminole …
Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group o …
[The cutaneous porphyrias].
Cuny JF. Cuny JF. Ann Dermatol Venereol. 2019 Feb;146(2):143-159. doi: 10.1016/j.annder.2018.12.005. Epub 2019 Jan 30. Ann Dermatol Venereol. 2019. PMID: 30709634 Review. French.
Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, heredita …
Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The cli …
Ferrochelatase.
Ferreira GC. Ferreira GC. Int J Biochem Cell Biol. 1999 Oct;31(10):995-1000. doi: 10.1016/s1357-2725(99)00066-7. Int J Biochem Cell Biol. 1999. PMID: 10582332 Review.
The definition of the structure and catalytic mechanism of ferrochelatase should help in the interpretation of the impact caused by erythropoietic porphyria mutations....
The definition of the structure and catalytic mechanism of ferrochelatase should help in the interpretation of the impact caused by erythrop …
Uroporphyrinogen decarboxylase.
Elder GH, Roberts AG. Elder GH, et al. J Bioenerg Biomembr. 1995 Apr;27(2):207-14. doi: 10.1007/BF02110035. J Bioenerg Biomembr. 1995. PMID: 7592567 Review.
Halogenated and other aromatic hydrocarbons cause hepatic uroporphyria by decreasing hepatic uroporphyrinogen decarboxylase activity. Two related human porphyrias, porphyria cutanea tarda and hepatoerythropoietic porphyria, also result from deficiency of this …
Halogenated and other aromatic hydrocarbons cause hepatic uroporphyria by decreasing hepatic uroporphyrinogen decarboxylase activity. Two re …
The cutaneous porphyrias.
Lim HW, Cohen JL. Lim HW, et al. Semin Cutan Med Surg. 1999 Dec;18(4):285-92. doi: 10.1016/s1085-5629(99)80027-3. Semin Cutan Med Surg. 1999. PMID: 10604794 Review.
Two of the porphyrias, aminolevulinate dehydratase deficiency porphyria and acute intermittent porphyria do not have cutaneous findings. ...In addition, 2 of the porphyrias, hereditary coproporphyria and variegate porphyria have both cutaneous and neuroviscer …
Two of the porphyrias, aminolevulinate dehydratase deficiency porphyria and acute intermittent porphyria do not have cutaneous …
Porphyria: genetic and acquired.
Cripps DJ. Cripps DJ. IARC Sci Publ. 1986;(77):549-66. IARC Sci Publ. 1986. PMID: 3298037 Review.
Acute intermittent neurological symptoms of neuritis, abdominal pain and psychoses may occur in acute intermittent porphyria, hereditary coproporphyria and variegata porphyria. Increase of the porphyrin precursors delta-aminolaevulinic acid and porphobilinogen may b …
Acute intermittent neurological symptoms of neuritis, abdominal pain and psychoses may occur in acute intermittent porphyria, heredit …
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
Liver transplantation in the management of porphyria.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Singal AK, et al. Hepatology. 2014 Sep;60(3):1082-9. doi: 10.1002/hep.27086. Epub 2014 Jul 29. Hepatology. 2014. PMID: 24700519 Free PMC article. Review.
Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porp …
Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta …
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
Erythropoietic protoporphyria.
Cox TM. Cox TM. J Inherit Metab Dis. 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. J Inherit Metab Dis. 1997. PMID: 9211198 Review.
This review surveys the pathological features, genetics and treatment of porphyria....
This review surveys the pathological features, genetics and treatment of porphyria....
53 results