401 related articles for article (PubMed ID: 30454868)
1. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
[TBL] [Abstract][Full Text] [Related]
2. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
[TBL] [Abstract][Full Text] [Related]
3. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
[TBL] [Abstract][Full Text] [Related]
4. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
[TBL] [Abstract][Full Text] [Related]
5. Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD; Mason NG; Holme SA; Anstey AV; Elder GH; Badminton MN
Br J Dermatol; 2010 Mar; 162(3):642-6. PubMed ID: 20105171
[TBL] [Abstract][Full Text] [Related]
6. A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag MS; Kučerová J; Šlachtová L; Šeda O; Šperl J; Martásek P
Folia Biol (Praha); 2015; 61(6):227-32. PubMed ID: 26789144
[TBL] [Abstract][Full Text] [Related]
7. Erythropoietic protoporphyria.
Lecha M; Puy H; Deybach JC
Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
[TBL] [Abstract][Full Text] [Related]
8. [Inheritance in erythropoietic protoporphyria].
Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P; Brancaleoni V; Di Pierro E; Graziadei G; Macrì A; Carmine Guida C; Nicolli A; Rossi MT; Granata F; Fiorentino V; Fustinoni S; Sala R; Pinton PC; Trevisan A; Marchini S; Cuoghi C; Marcacci M; Corradini E; Sorge F; Aurizi C; Savino MG; Cappellini MD; Pietrangelo A
Eur J Dermatol; 2020 Oct; 30(5):532-540. PubMed ID: 33021473
[TBL] [Abstract][Full Text] [Related]
10. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M; Chen B; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):320-331. PubMed ID: 30594473
[TBL] [Abstract][Full Text] [Related]
11. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
[TBL] [Abstract][Full Text] [Related]
12. New developments in erythropoietic porphyrias.
Darwich E; Herrero C
Actas Dermosifiliogr; 2013 Apr; 104(3):212-9. PubMed ID: 22766189
[TBL] [Abstract][Full Text] [Related]
13. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y; Chen B; Yasuda M; Nazarenko I; Anderson KE; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
[TBL] [Abstract][Full Text] [Related]
14. The molecular genetics of erythropoietic protoporphyria.
Elder GH; Gouya L; Whatley SD; Puy H; Badminton MN; Deybach JC
Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):118-26. PubMed ID: 19656460
[TBL] [Abstract][Full Text] [Related]
15. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
Herrero C; To-Figueras J; Badenas C; Méndez M; Serrano P; Enríquez-Salamanca R; Lecha M
Arch Dermatol; 2007 Sep; 143(9):1125-9. PubMed ID: 17875872
[TBL] [Abstract][Full Text] [Related]
16. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Long ZB; Wang YW; Yang C; Liu G; Du YL; Nie GJ; Chang YZ; Han B
J Zhejiang Univ Sci B; 2016 Oct.; 17(10):813-820. PubMed ID: 27704751
[TBL] [Abstract][Full Text] [Related]
17. X-linked dominant protoporphyria: The first reported Japanese case.
Ninomiya Y; Kokunai Y; Tanizaki H; Akasaka E; Nakano H; Moriwaki S
J Dermatol; 2016 Apr; 43(4):414-8. PubMed ID: 26387792
[TBL] [Abstract][Full Text] [Related]
18. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK; Quick C; Ducamp S; Zhu Z; Feng YA; Naik H; Balwani M; Anderson KE; Lin X; Phillips JE; Rebeiz L; Bonkovsky HL; McGuire BM; Wang B; Chasman DI; Smoller JW; Fleming MD; Christiani DC
Genet Med; 2021 Jan; 23(1):140-148. PubMed ID: 32873934
[TBL] [Abstract][Full Text] [Related]
19. A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.
Wang X; Poh-Fitzpatrick M; Piomelli S
Biochim Biophys Acta; 1994 Oct; 1227(1-2):25-7. PubMed ID: 7918679
[TBL] [Abstract][Full Text] [Related]
20. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Bloomer JR; Wang Y; Singhal A; Risheg H
J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S36-40. PubMed ID: 16819399
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]