152 related articles for article (PubMed ID: 24131146)
1. X-linked dominant protoporphyria: a new porphyria.
Seager MJ; Whatley SD; Anstey AV; Millard TP
Clin Exp Dermatol; 2014 Jan; 39(1):35-7. PubMed ID: 24131146
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S; Schneider-Yin X; de Rooij F; Clayton J; Fratz EJ; Rudd A; Ostapowicz G; Varigos G; Lefebvre T; Deybach JC; Gouya L; Wilson P; Ferreira GC; Minder EI; Puy H
Hum Mol Genet; 2013 Apr; 22(7):1280-8. PubMed ID: 23263862
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Photosensitivity in the elderly-think of late-onset protoporphyria.
Frank J; Poblete-Gutiérrez P; Neumann NJ
J Invest Dermatol; 2013 Jun; 133(6):1467-71. PubMed ID: 23673504
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Brancaleoni V; Balwani M; Granata F; Graziadei G; Missineo P; Fiorentino V; Fustinoni S; Cappellini MD; Naik H; Desnick RJ; Di Pierro E
Clin Genet; 2016 Jan; 89(1):20-6. PubMed ID: 25615817
[TBL] [Abstract][Full Text] [Related]
8. X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia.
Landefeld C; Kentouche K; Gruhn B; Stauch T; Rößler S; Schuppan D; Whatley SD; Beck JF; Stölzel U
Br J Haematol; 2016 May; 173(3):482-4. PubMed ID: 26193873
[No Abstract] [Full Text] [Related]
9. 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]
10. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly.
Livideanu CB; Ducamp S; Lamant L; Gouya L; Rauzy OB; Deybach JC; Paul C; Puy H; Marguery MC
J Invest Dermatol; 2013 Jun; 133(6):1688-90. PubMed ID: 23223129
[No Abstract] [Full Text] [Related]
11. Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
Levy C; Dickey AK; Wang B; Thapar M; Naik H; Keel SB; Saberi B; Beaven SW; Rudnick SR; Elmariah SB; Erwin AL; Goddu RJ; Hedstrom K; Leaf RK; Kazamel M; Mazepa M; Philpotts LL; Quigley J; Raef H; Ungar J; Anderson KE; Balwani M;
Hepatology; 2024 Mar; 79(3):731-743. PubMed ID: 37505211
[No Abstract] [Full Text] [Related]
12. Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
García-Martínez FJ; Gutiérrez-González E; Alonso-González J; Vega A; Santamariña M; Rodríguez-Granados MT; Toribio J
Dermatology; 2013; 227(3):238-42. PubMed ID: 24135682
[TBL] [Abstract][Full Text] [Related]
13. Hepatobiliary and Pancreatic: A rare cause of decompensated liver cirrhosis.
Dong XQ; Li J; Liu H; Wang YW; Wang H; Huo N; Wang Y; Zhao H
J Gastroenterol Hepatol; 2018 Nov; 33(11):1820. PubMed ID: 29862561
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab; 2019 Nov; 128(3):298-303. PubMed ID: 30704898
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
Fratz-Berilla EJ; Breydo L; Gouya L; Puy H; Uversky VN; Ferreira GC
Biochim Biophys Acta Mol Basis Dis; 2017 Feb; 1863(2):428-439. PubMed ID: 27838491
[TBL] [Abstract][Full Text] [Related]
19. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Bishop DF; Tchaikovskii V; Nazarenko I; Desnick RJ
Mol Med; 2013 Mar; 19(1):18-25. PubMed ID: 23348515
[TBL] [Abstract][Full Text] [Related]
20. Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Fratz EJ; Clayton J; Hunter GA; Ducamp S; Breydo L; Uversky VN; Deybach JC; Gouya L; Puy H; Ferreira GC
Biochemistry; 2015 Sep; 54(36):5617-31. PubMed ID: 26300302
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]