Publications by authors named "Ylva Floderus"

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Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.
Mattias Lissing, Axel Wester, Daphne Vassiliou, Ylva Floderus, Pauline Harper

J Inherit Metab Dis· November 2023

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Ylva Floderus

Am J Hum Genet· October 2023

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Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
Mattias Lissing, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Jacinth Yan

J Inherit Metab Dis· March 2023

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Ylva Floderus

bioRxiv· February 2023

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Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Mattias Lissing, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Matteo Bottai

J Intern Med· June 2022

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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Brenden Chen, Sharon Whatley, Michael Badminton, Aasne K Aarsand, Karl E Anderson, Ylva Floderus

Genet Med· November 2019

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Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus

Orphanet J Rare Dis· January 2013

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A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
Anne Moniek van Tuyll van Serooskerken, Manon Ernst, Reno S Bladergroen, Carlos Wolff, Ylva Floderus

J Dermatol Sci· January 2011

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Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.
Eliane Sardh, Pauline Harper, Dan E H Andersson, Ylva Floderus

Eur J Intern Med· March 2009

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Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion.
Ylva Floderus, Eliane Sardh, Christer Möller, Claes Andersson, Lillan Rejkjaer

Clin Chem· April 2006

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The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden.
Ylva Linde, Pauline Harper, Ylva Floderus, Anne-Marie Ros

Acta Derm Venereol· July 2005

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Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Kjersti Tjensvoll, Ove Bruland, Ylva Floderus, Øyvind Skadberg, Sverre Sandberg

Dis Markers· February 2004

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Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Asa Wiman, Ylva Floderus, Pauline Harper

J Hum Genet· March 2003

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Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
Asa Wiman, Ylva Floderus, Pauline Harper

J Hum Genet· October 2002

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