198 related articles for article (PubMed ID: 16433813)
1. A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
Poblete-Gutiérrez P; Wolff C; Farias R; Frank J
Br J Dermatol; 2006 Feb; 154(2):368-71. PubMed ID: 16433813
[TBL] [Abstract][Full Text] [Related]
2. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
de Villiers JN; Kotze MJ; van Heerden CJ; Sadie A; Gardner HF; Liebenberg J; van Zyl R; du Plessis L; Kimberg M; Frank J; Warnich L
Exp Dermatol; 2005 Jan; 14(1):50-5. PubMed ID: 15660919
[TBL] [Abstract][Full Text] [Related]
3. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
Wolff C; Frank J; Poblete-Gutiérrez P
Rev Invest Clin; 2006; 58(4):289-95. PubMed ID: 17146940
[TBL] [Abstract][Full Text] [Related]
4. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.
Hift RJ; Meissner D; Meissner PN
Br J Dermatol; 2004 Aug; 151(2):465-71. PubMed ID: 15327556
[TBL] [Abstract][Full Text] [Related]
5. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM; Drögemöller BI; Te Velde K; Bladergroen RS; Steijlen PM; Poblete-Gutiérrez P; van Geel M; van Heerden CJ; Warnich L; Frank J
Br J Dermatol; 2012 Feb; 166(2):261-5. PubMed ID: 21910705
[TBL] [Abstract][Full Text] [Related]
6. A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
Vafaee-Shahi M; Ghasemi S; Riahi A; Sadr Z
Ital J Pediatr; 2022 Feb; 48(1):27. PubMed ID: 35164799
[TBL] [Abstract][Full Text] [Related]
7. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
Corrigall AV; Hift RJ; Davids LM; Hancock V; Meissner D; Kirsch RE; Meissner PN
Mol Genet Metab; 2000 Apr; 69(4):323-30. PubMed ID: 10870850
[TBL] [Abstract][Full Text] [Related]
8. Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM; de Rooij FW; Edixhoven A; Bladergroen RS; Baron JM; Joussen S; Merk HF; Steijlen PM; Poblete-Gutiérrez P; te Velde K; Wilson JH; Koole RH; van Geel M; Frank J
J Invest Dermatol; 2011 Nov; 131(11):2249-54. PubMed ID: 21734717
[TBL] [Abstract][Full Text] [Related]
9. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
Corrigall AV; Hift RJ; Hancock V; Meissner D; Davids L; Kirsch RE; Meissner PN
Hum Mutat; 1998; 12(6):403-7. PubMed ID: 9829909
[TBL] [Abstract][Full Text] [Related]
10. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
Corrigall AV; Hift RJ; Davids LM; Hancock V; Meissner D; Kirsch RE; Meissner PN
Mol Genet Metab; 2001 May; 73(1):91-6. PubMed ID: 11350188
[TBL] [Abstract][Full Text] [Related]
11. Homozygous variegate porphyria presenting with developmental and language delay in childhood.
Pinder VA; Holden ST; Deshpande C; Siddiqui A; Mellerio JE; Wraige E; Powell AM
Clin Exp Dermatol; 2013 Oct; 38(7):737-40. PubMed ID: 24073655
[TBL] [Abstract][Full Text] [Related]
12. Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.
Lecha M; Badenas C; Puig S; Orfila J; Milà M; To-Figueras J; Muñoz C; Mercader P; Herrero C
J Eur Acad Dermatol Venereol; 2006 Sep; 20(8):974-9. PubMed ID: 16922948
[TBL] [Abstract][Full Text] [Related]
13. Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Van Tuyll Van Serooskerke AM; Schneider-Yin X; Schimmel RJ; Bladergroen RS; Poblete-Gutiérrez P; Barman J; van Geel M; Frank J; Minder EI
Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):96-101. PubMed ID: 19656457
[TBL] [Abstract][Full Text] [Related]
14. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Ausenda S; Moriondo V; Marchini S; Besana V; Di Pierro E; Brancaleoni V; Ventura P; Rocchi E; Cappellini MD
Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320019
[No Abstract] [Full Text] [Related]
15. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Ausenda S; Di Pierro E; Brancaleoni V; Besana V; Cappellini MD
Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350656
[No Abstract] [Full Text] [Related]
16. Structural insight into human variegate porphyria disease.
Qin X; Tan Y; Wang L; Wang Z; Wang B; Wen X; Yang G; Xi Z; Shen Y
FASEB J; 2011 Feb; 25(2):653-64. PubMed ID: 21048046
[TBL] [Abstract][Full Text] [Related]
17. Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
Reiser M; Eickmann S; Haverkamp T; Finckh U
Obes Rev; 2010 Apr; 11(4):329-31. PubMed ID: 19845869
[TBL] [Abstract][Full Text] [Related]
18. Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Rossetti MV; Granata BX; Giudice J; Parera VE; Batlle A
BMC Med Genet; 2008 Jun; 9():54. PubMed ID: 18570668
[TBL] [Abstract][Full Text] [Related]
19. Swiss patients with variegate porphyria have unique mutations.
Schneider-Yin X; Minder EI
Swiss Med Wkly; 2006 Aug; 136(31-32):515-9. PubMed ID: 16947091
[TBL] [Abstract][Full Text] [Related]
20. Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
Tabaro I; Reimondo G; Osella G; Aurizi C; Caraci P; Barbieri L; Giachino DF; Sirchia F; Terzolo M
Endocrine; 2018 Sep; 61(3):403-406. PubMed ID: 29516370
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
