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Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication

Acta dermato-venereologica, 2010-01, Vol.90 (5), p.512-515

2010

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Troponin as a risk factor for mortality in critically ill patients without acute coronary syndromes

Journal of the American College of Cardiology, 2003-06, Vol.41 (11), p.2004-2009

2003

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Elevation of troponin I in sepsis and septic shock

Intensive care medicine, 2001-06, Vol.27 (6), p.965-969

2001

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Swiss patients with variegate porphyria have unique mutations

Swiss medical weekly, 2006-08

2006

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Lack of Effect of Oral Charcoal in Congenital Erythropoietic Porphyria

The New England journal of medicine, 1994-04, Vol.330 (15), p.1092-1094

1994

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A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

Journal of the European Academy of Dermatology and Venereology, 2010-11, Vol.24 (11), p.1349-1353

2010

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Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

American journal of human genetics, 1998-06, Vol.62 (6), p.1341-1352

1998

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Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients

Molecular medicine (Cambridge, Mass.), 2001-08, Vol.7 (8), p.535-542

2001

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New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

European journal of pediatrics, 2000-10, Vol.159 (10), p.719-725

2000

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Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

European journal of haematology, 2006-01, Vol.76 (1), p.33-41

2006

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Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria

Clinical genetics, 2006-03, Vol.69 (3), p.284-286

2006

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A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters

Blood cells, molecules, & diseases, 2003-05, Vol.30 (3), p.298-301

2003

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A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria

Cellular and molecular biology (Noisy-le-Grand, France), 2002-02, Vol.48 (1), p.91

2002

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Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.625-631

2004

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Haplotype Analysis in Determination of the Heredity of Erythropoietic Protoporphyria among Swiss Families

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1521-1525

2001

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Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

Human heredity, 2002-01, Vol.54 (2), p.69-81

2002

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Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

Human heredity, 2000-07, Vol.50 (4), p.247-250

2000

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Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria

Journal of investigative dermatology, 1998-09, Vol.111 (3), p.406-409

1998

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Development of a gas chromatography-mass spectrometry method for determination of ketamine in plasma and its application to human samples

Therapeutic drug monitoring, 1995-02, Vol.17 (1), p.95-100

1995

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Molecular defects in erythropoietic protoporphyria with terminal liver failure

Human genetics, 1994-06, Vol.93 (6), p.711-713

1994

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Coproporphyrin isomers in acute-intermittent porphyria

Scandinavian journal of clinical and laboratory investigation, 1993-02, Vol.53 (1), p.87-90

Minder, E. L.

1993

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Human ferrochelatase : a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

Human genetics, 1995-04, Vol.95 (4), p.391-396

1995

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Rapid Molecular Diagnosis of Erythropoietic Protoporphyria among Swiss Patients

Clinical chemistry and laboratory medicine, 1998-10, Vol.36 (10), p.763-765

1998

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Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication

Troponin as a risk factor for mortality in critically ill patients without acute coronary syndromes

Elevation of troponin I in sepsis and septic shock

Swiss patients with variegate porphyria have unique mutations

PHS39 - An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP

An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP

Lack of Effect of Oral Charcoal in Congenital Erythropoietic Porphyria

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria

A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters

A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria

Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs

Haplotype Analysis in Determination of the Heredity of Erythropoietic Protoporphyria among Swiss Families

Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria

Development of a gas chromatography-mass spectrometry method for determination of ketamine in plasma and its application to human samples

Molecular defects in erythropoietic protoporphyria with terminal liver failure

Coproporphyrin isomers in acute-intermittent porphyria

Human ferrochelatase : a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

Rapid Molecular Diagnosis of Erythropoietic Protoporphyria among Swiss Patients

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