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Year Number of Results
1946 1
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1953 1
1954 1
1956 1
1957 1
1960 1
1961 1
1962 1
1964 4
1965 4
1966 5
1967 2
1968 2
1969 1
1970 5
1971 3
1972 2
1973 2
1974 6
1975 7
1976 6
1977 5
1978 13
1979 5
1980 10
1981 7
1982 6
1983 2
1984 8
1985 4
1986 4
1987 4
1988 5
1989 11
1990 7
1991 5
1992 11
1993 5
1994 13
1995 17
1996 8
1997 12
1998 8
1999 17
2000 11
2001 13
2002 11
2003 8
2004 12
2005 15
2006 17
2007 13
2008 17
2009 13
2010 12
2011 15
2012 14
2013 13
2014 15
2015 24
2016 18
2017 12
2018 17
2019 19
2020 17
2021 22
2022 21
2023 24
2024 5

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587 results

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Page 1
Acute porphyrias - A neurological perspective.
Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A. Gerischer LM, et al. Brain Behav. 2021 Nov;11(11):e2389. doi: 10.1002/brb3.2389. Epub 2021 Oct 17. Brain Behav. 2021. PMID: 34661997 Free PMC article. Review.
AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA-dehydratase porphyria (ALADP). ...
AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute int …
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M. Wang B, et al. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. Gastroenterology. 2023. PMID: 36642627 Free PMC article. Review.
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. …
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent p …
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL. Bissell DM, et al. N Engl J Med. 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. N Engl J Med. 2017. PMID: 28854095 Review. No abstract available.
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.
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), he …
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary copropo …
Acute intermittent porphyria: A case report.
Bustos J, Vargas L, Quintero R. Bustos J, et al. Biomedica. 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767. Biomedica. 2020. PMID: 32220159 Free PMC article. English, Spanish.
It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. ...It refers to a heterogeneous …
It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute …
Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M. Dickey AK, et al. Annu Rev Med. 2024 Jan 29;75:321-335. doi: 10.1146/annurev-med-042921-123602. Epub 2023 Aug 4. Annu Rev Med. 2024. PMID: 37540847 Free article. Review.
Porphyric neuropathy.
Lin CS, Park SB, Krishnan AV. Lin CS, et al. Handb Clin Neurol. 2013;115:613-27. doi: 10.1016/B978-0-444-52902-2.00036-9. Handb Clin Neurol. 2013. PMID: 23931806 Review.
Neurological Manifestations of Acute Porphyrias.
Wylie K, Testai FD. Wylie K, et al. Curr Neurol Neurosci Rep. 2022 Jul;22(7):355-362. doi: 10.1007/s11910-022-01205-7. Epub 2022 Jun 4. Curr Neurol Neurosci Rep. 2022. PMID: 35665475 Review.
Porphyrias.
Kauppinen R. Kauppinen R. Lancet. 2005 Jan 15-21;365(9455):241-52. doi: 10.1016/S0140-6736(05)17744-7. Lancet. 2005. PMID: 15652607 Review.
Variegate porphyria.
Mustajoki P. Mustajoki P. Ann Intern Med. 1978 Aug;89(2):238-44. doi: 10.7326/0003-4819-89-2-238. Ann Intern Med. 1978. PMID: 677592
In temperate and cold climates the most usual presenting symptom of variegate porphyria is an acute porphyric attack, indistinguishable from that seen in acute intermittent porphyria. Increased fragility of the skin in sun-exposed areas occurs in only half of …
In temperate and cold climates the most usual presenting symptom of variegate porphyria is an acute porphyric attack, indistinguishable from …
587 results