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X Schneider-Yin Selected Research

Erythropoietic Protoporphyria

6/2015Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.
11/2010A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
2/2009A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.
12/2008Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
2/2002A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
12/2001Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
6/2001New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
10/2000New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
8/2000Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

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X Schneider-Yin Research Topics

Disease

9Erythropoietic Protoporphyria
06/2015 - 08/2000
4Acute Intermittent Porphyria (Porphyria, Acute)
03/2006 - 07/2000
2Porphyrias (Porphyria)
06/2015 - 10/2012
1Nausea
06/2015
1Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
10/2012
1Hepatic Porphyrias (Hepatic Porphyria)
07/2009
1Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
07/2009
1Liver Diseases (Liver Disease)
02/2002
1Liver Failure
08/2000

Drug/Important Bio-Agent (IBA)

7Heme (Haem)IBA
11/2010 - 07/2000
7Ferrochelatase (Heme Synthetase)IBA
11/2010 - 08/2000
6protoporphyrin IXIBA
06/2015 - 08/2000
3Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
03/2006 - 07/2000
2EnzymesIBA
07/2009 - 07/2000
2PorphobilinogenIBA
01/2004 - 08/2001
2IronIBA
10/2000 - 08/2000
1PorphyrinsIBA
06/2015
1afamelanotideIBA
06/2015
1Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
10/2012
1Protoporphyrinogen Oxidase (Protox)IBA
07/2009
1Photosensitizing Agents (Photosensitizers)IBA
02/2009
1SulfurIBA
08/2000
1LigandsIBA
08/2000
1Nonsense Codon (Nonsense Mutation)IBA
07/2000