Elisabeth I Minder

Summary

Affiliation: Stadtspital Triemli
Country: Switzerland

Publications

  1. doi request reprint Exacerbation of erythropoietic protoporphyria by hyperthyroidism
    Elisabeth I Minder
    Central Laboratory, Triemli Hospital, Zurich, Switzerland
    J Inherit Metab Dis 33:S465-9. 2010
  2. ncbi request reprint A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria
    E I Minder
    Stadtspital Triemli, Zentrallabor, CH 8063 Zurich
    Cell Mol Biol (Noisy-le-grand) 55:84-97. 2009
  3. doi request reprint Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria
    Elisabeth I Minder
    Stadtspital Triemli, Central Laboratory, Zurich, CH 8063, Switzerland
    Expert Opin Investig Drugs 19:1591-602. 2010
  4. doi request reprint A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma
    E I Minder
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    J Eur Acad Dermatol Venereol 24:1349-53. 2010
  5. ncbi request reprint A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria
    E I Minder
    Zentrallabor Stadtspital Triemli, Zurich, Switzerland
    Cell Mol Biol (Noisy-le-grand) 48:91-6. 2002
  6. doi request reprint Porphyria in Switzerland, 15 years experience
    Xiaoye Schneider-Yin
    Central Laboratory, Stadtspital Triemli, Zurich, Switzerland
    Swiss Med Wkly 139:198-206. 2009
  7. ncbi request reprint New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
    X Schneider Yin
    Zentrallabor, Stadtspital Triemli, , Switzerland
    Eur J Pediatr 159:719-25. 2000
  8. pmc Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal
    Elisabeth I Minder
    Stadtspital Triemli, Zentrallabor, Birmensdorferstrasse 497, CH 8063 Zurich, Switzerland
    Health Qual Life Outcomes 8:60. 2010
  9. doi request reprint Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.)
    Jasmin Barman-Aksözen
    Institute of Laboratory Medicine, Stadtspital Triemli, Zurich, Switzerland
    Blood Cells Mol Dis 51:151-61. 2013
  10. doi request reprint Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Mol Genet Metab 94:343-6. 2008

Collaborators

Detail Information

Publications22

  1. doi request reprint Exacerbation of erythropoietic protoporphyria by hyperthyroidism
    Elisabeth I Minder
    Central Laboratory, Triemli Hospital, Zurich, Switzerland
    J Inherit Metab Dis 33:S465-9. 2010
    ..Although the exact mechanism whereby Graves' disease interacts with EPP is yet to be explored, we recommend testing thyroid function in EPP patients with liver complication to exclude hyperthyroidism as a potential cause...
  2. ncbi request reprint A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria
    E I Minder
    Stadtspital Triemli, Zentrallabor, CH 8063 Zurich
    Cell Mol Biol (Noisy-le-grand) 55:84-97. 2009
    ..We conclude, that the available data are insufficient to prove efficacy of any treatments studied so far in EPP. We emphasize the necessity of high quality efficacy studies in porphyrias and in other rare diseases...
  3. doi request reprint Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria
    Elisabeth I Minder
    Stadtspital Triemli, Central Laboratory, Zurich, CH 8063, Switzerland
    Expert Opin Investig Drugs 19:1591-602. 2010
    ..Afamelanotide, an α-melanocyte stimulating hormone (MSH) agonistic analog is a first-in-class therapeutic. Its application to protoporphyria (PP), a disease associated with absolute sunlight-intolerance is discussed...
  4. doi request reprint A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma
    E I Minder
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    J Eur Acad Dermatol Venereol 24:1349-53. 2010
    ..In the majority of families, EPP is transmitted as a pseudodominant trait. Autosomal recessive form of EPP is found in only about 3% of the families...
  5. ncbi request reprint A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria
    E I Minder
    Zentrallabor Stadtspital Triemli, Zurich, Switzerland
    Cell Mol Biol (Noisy-le-grand) 48:91-6. 2002
    ..Although the risk for a EPP patient with a missense mutation to develop liver disease cannot be totally eliminated based on these data, it is comparably low...
  6. doi request reprint Porphyria in Switzerland, 15 years experience
    Xiaoye Schneider-Yin
    Central Laboratory, Stadtspital Triemli, Zurich, Switzerland
    Swiss Med Wkly 139:198-206. 2009
    ..All porphyrias, except for sporadic porphyria cutanea tarda (sPCT), are hereditary disorders caused by mutations in the respective genes. We present porphyria cases documented in our porphyria centre during the past 15 years...
  7. ncbi request reprint New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
    X Schneider Yin
    Zentrallabor, Stadtspital Triemli, , Switzerland
    Eur J Pediatr 159:719-25. 2000
    ..CONCLUSION: While covering the important clinical aspect of erythropoietic protoporphyria, this article emphasises the latest achievements in the molecular genetics of the disorder...
  8. pmc Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal
    Elisabeth I Minder
    Stadtspital Triemli, Zentrallabor, Birmensdorferstrasse 497, CH 8063 Zurich, Switzerland
    Health Qual Life Outcomes 8:60. 2010
    ..No standardized tools to quantify the degree of PP-related phototoxicity and its change by medical intervention have been published...
  9. doi request reprint Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.)
    Jasmin Barman-Aksözen
    Institute of Laboratory Medicine, Stadtspital Triemli, Zurich, Switzerland
    Blood Cells Mol Dis 51:151-61. 2013
    ..This in turn, influences the relative amounts of correct and aberrant FECH mRNA splice products and thus, regulates the FECH enzyme activity. ..
  10. doi request reprint Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Mol Genet Metab 94:343-6. 2008
    ..It also highlights the fact that there are still many aspects to be investigated concerning AIP and corroborates the need to report new data that can help to clarify the genotype-phenotype relationship...
  11. doi request reprint Hypericin and 5-aminolevulinic acid-induced protoporphyrin IX induce enhanced phototoxicity in human endometrial cancer cells with non-coherent white light
    Xiaoye Schneider-Yin
    Central Laboratory, Triemli Hospital, Zurich, Switzerland
    Photodiagnosis Photodyn Ther 6:12-8. 2009
    ..This patient ingested a hypericin containing plant extract in parallel to orally applied 5-ALA...
  12. ncbi request reprint Swiss patients with variegate porphyria have unique mutations
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Swiss Med Wkly 136:515-9. 2006
    ..VP is little known in Switzerland. In this study, we report a clinical, biochemical and mutational study of eight Swiss VP patients and their families...
  13. ncbi request reprint Troponin as a risk factor for mortality in critically ill patients without acute coronary syndromes
    Peter Ammann
    Division of Cardiology, Triemli Hospital, Zurich, Switzerland
    J Am Coll Cardiol 41:2004-9. 2003
    ..We sought to assess the mechanism and prognostic value of elevated troponins in patients without acute coronary syndromes (ACS)...
  14. pmc Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent Porphyria
    Pascal Frei
    Division of Gastroenterology and Hepatology, University Hospital Zurich, Zurich, Switzerland
    Case Rep Gastroenterol 6:190-6. 2012
    ..Knowledge of a potentially fatal course is important for the management of future cases. If acute liver failure in case of heme arginate overdose is progressive, super-urgent liver transplantation has to be evaluated...
  15. ncbi request reprint Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Hum Hered 54:69-81. 2002
    ..Around 550 years ago, a recombination event occurred between intron 3 and 10 of the PBGD gene which resulted in the [C-A-A-A-G-C-W283X-G] haplotype only found in a restricted region...
  16. doi request reprint A bioassay for the detection of neutralizing antibodies against the α-melanocyte stimulating hormone analog afamelanotide in patients with erythropoietic protoporphyria
    Rebecca Spichty
    Institute for Laboratory Medicine, Stadtspital Triemli, Zurich CH 8063, Switzerland
    J Pharm Biomed Anal 75:192-8. 2013
    ..Further, the low titer immunoreactivity observed in sera of some drug-naïve individuals had no effect on the biological activity of afamelanotide...
  17. doi request reprint Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone
    Juergen H Harms
    Stadtspital Triemli, Central Laboratory, University Hospital of Zurich, Zurich, Switzerland
    Photochem Photobiol 85:1434-9. 2009
    ..The findings demonstrate beneficial effects of afamelanotide in patients with EPP. Due to the limited number of patients enrolled and the design being an open-label study, confirmation by a large-scale trial is required...
  18. pmc Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
    U B Rüfenacht
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Am J Hum Genet 62:1341-52. 1998
    ..Our systematic molecular study has resulted in a significant enlargement of the mutation repertoire in the FECH gene and has shed new light on the hereditary behavior of EPP...
  19. ncbi request reprint Molecular defects in erythropoietic protoporphyria with terminal liver failure
    X Schneider Yin
    Zentrallabor, Stadtspital Triemli, , Switzerland
    Hum Genet 93:711-3. 1994
    ..Frameshift as a result of the deletion creates a stop codon. This study presents two new genotypes of EPP, including one with liver failure, a rare and fatal form of EPP...
  20. ncbi request reprint Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families
    X Schneider Yin
    Zentrallabor, Stadtspital Triemli, , Switzerland
    J Invest Dermatol 117:1521-5. 2001
    ..These results supported the recent findings that the low expressed allele is tightly linked to a haplotype [-251G; IVS1-23T] of two intragenic single nucleotide polymorphisms in the ferrochelatase gene...
  21. ncbi request reprint Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing
    X Schneider Yin
    Zentrallabor, Stadtspital Triemli, , Switzerland
    Hum Genet 95:391-6. 1995
    ..This isoform, roughly 20% of the total ferrochelatase mRNA, was generated through splicing at a second donor site in intron 2 and its presence was not linked to EPP...
  22. ncbi request reprint Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria
    L Gouya
    Center Francais des Porphyries, INSERM, Hopital Louis Mourier, Colombes, France
    J Invest Dermatol 111:406-9. 1998
    ....