Ylva Floderus

Publikationer
Populärvetenskap och samverkan

Artiklar

Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2023;46(6):1186-1194

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients

Lissing M; Wester A; Vassiliou D; Floderus Y; Harper P; Sardh E; Wahlin S
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2023;110(10):1769-1786

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Sheykhkarimli D; Gebbia M; Kishore N; Fresard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2023;46(2):286-299

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals

Lissing M; Vassiliou D; Floderus Y; Harper P; Yan J; Hagstrom H; Sardh E; Wahlin S
Article: JOURNAL OF INTERNAL MEDICINE. 2022;291(6):824-836

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals

Lissing M; Vassiliou D; Floderus Y; Harper P; Bottai M; Kotopouli M; Hagstrom H; Sardh E; Wahlin S
Article: GENETICS IN MEDICINE. 2019;21(11):2605-2613

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Chen B; Whatley S; Badminton M; Aarsand AK; Anderson KE; Bissell DM; Bonkovsky HL; Cappellini MD; Floderus Y; Friesema ECH; Gouya L; Harper P; Kauppinen R; Loskove Y; Martasek P; Phillips JD; Puy H; Sandberg S; Schmitt C; To-Figueras J; Weiss Y; Yasuda M; Deybach J-C; Desnick RJ
Article: ORPHANET JOURNAL OF RARE DISEASES. 2013;8:13

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: CLINICAL GENETICS. 2012;81(3):249-256

Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria

Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: JOURNAL OF INTERNAL MEDICINE. 2011;269(3):278-288

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

Wahlin S; Floderus Y; Stal P; Harper P
Article: EUROPEAN JOURNAL OF INTERNAL MEDICINE. 2009;20(2):201-207

Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks

Sardh E; Harper P; Andersson DEH; Floderus Y
Article: CLINICAL CHEMISTRY. 2006;52(4):701-707

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

Floderus Y; Sardh E; Möller C; Andersson C; Rejkjaer L; Andersson DEH; Harper P
Article: PHYSIOLOGICAL RESEARCH. 2006;55:S155-S157

The difficult clinical diagnosis of erythropoietic protoporphyria

Wahlin S; Floderus Y; Ros A-M; Broome U; Harper P
Article: PHYSIOLOGICAL RESEARCH. 2006;55:S109-S118

Porphyria in Sweden

Thunell S; Floderus Y; Henrichson A; Harper P
Article: ACTA DERMATO-VENEREOLOGICA. 2005;85(2):164-166

The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden

Linde Y; Harper P; Floderus Y; Ros AM
Article: CLINICAL GENETICS. 2003;64(2):122-130

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria

Wiman Å; Harper P; Floderus Y
Article: DISEASE MARKERS. 2003;19(1):41-46

Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

Tjensvoll K; Bruland O; Floderus Y; Skadberg Ø; Sandberg S; Apold J
Article: JOURNAL OF HUMAN GENETICS. 2003;48(2):70-76

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

Wiman Å; Floderus Y; Harper P
Article: CLINICAL GENETICS. 2002;62(4):288-297

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene

Floderus Y; Shoolingin-Jordan PM; Harper P
Article: JOURNAL OF HUMAN GENETICS. 2002;47(8):407-412

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

Wiman Å; Floderus Y; Harper P
Article: BLOOD. 2001;97(10):2972-2978

Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria

Maruno M; Furuyama K; Akagi R; Horie Y; Meguro K; Garbaczewski L; Chiorazzi N; Doss MO; Hassoun A; Mercelis R; Verstraeten L; Harper P; Floderus Y; Thunell S; Sassa S
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2000;60(7):643-648

The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.

Andersson C; Floderus Y; Wikberg A; Lithner F
Article: ARCHIVES OF ENVIRONMENTAL & OCCUPATIONAL HEALTH. 1999;54(4):248-253

Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene.

Seldén AI; Floderus Y; Bodin LS; Westberg HB; Thunell S
Article: LAKARTIDNINGEN. 1998;95(25):2932-2935

[Porphyria--a metabolic mine field].

Floderus Y; Harper P; Henrichson A; Thunell S
Article: EUROPEAN JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY. 1997;35(6):427-433

Effects of administration of antioxidants in acute intermittent porphyria

Thunell S; Andersson D; Harper P; Henrichson A; Lindh U
Article: JOURNAL OF MEDICAL GENETICS. 1995;32(12):979-981

4 MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA

LUNDIN G; HASHEMI J; FLODERUS Y; THUNELL S; SAGEN E; LAEGREID A; WASSIF W; PETERS T; ANVRET M
Article: JOURNAL OF INTERNAL MEDICINE. 1995;237(3):301-308

DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA IN NORTHERN SWEDEN - AN EVALUATION OF MUTATION ANALYSIS AND BIOCHEMICAL METHODS

ANDERSSON C; THUNELL S; FLODERUS Y; FORSELL C; LUNDIN G; ANVRET M; LANNFELT L; WETTERBERG L; LITHNER F
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Preprint: BIORXIV. 2023;BIORXIV

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Gebbia M; Kishore N; Frésard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
Letter: JOURNAL OF DERMATOLOGICAL SCIENCE. 2011;61(1):75-77

A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

van Serooskerken AMVT; Ernst M; Bladergroen RS; Wolff C; Floderus Y; Harper P; Poblete-Gutierrez P; van Geel M; Frank J
Letter: JOURNAL OF INTERNAL MEDICINE. 2005;257(4):393

Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area -: Response

Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Letter: JOURNAL OF INTERNAL MEDICINE. 2005;257(4):391

Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area -: Response

Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Letter: JOURNAL OF INTERNAL MEDICINE. 2004;255(6):684-688

Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda

Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Review: LAKARTIDNINGEN. 1998;95(26-27):3045-3050

[Prevention of acute intermittent porphyria is the best solution. Most important are early diagnosis and counseling].

Floderus Y; Harper P; Henrichson A; Thunell S; Andersson D
Published conference paper: CELLULAR AND MOLECULAR BIOLOGY. 1997;43(1):1-8

Pathogenic mechanisms of the acute porphyric attack: Speculative roles of manganese associated enzymes

Thunell S; Floderus Y; Harper P; Henrichson A; Lindh U; Marklund S
Review: EUROPEAN JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY. 1995;33(4):179-194

MARKERS FOR VULNERABILITY IN ACUTE PORPHYRIA - A HYPOTHESIS PAPER

THUNELL S; ANDERSSON C; CARLMARK B; FLODERUS Y; GRONQVIST SO; HARPER P; HENRICHSON A; LINDH U

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