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المؤلفون: van Loggerenberg W; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Sowlati-Hashjin S; Institute of Biomedical Engineering, University of Toronto, ON, Canada.; Institute of Biomaterials and Biomedical Engineering, University of Toronto, ON, Canada., Weile J; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Hamilton R; Advanced Academic Programs, Johns Hopkins University, Washington, DC, USA., Chawla A; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Gebbia M; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Kishore N; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Frésard L; Invitae Corp, San Francisco, CA 94103, USA., Mustajoki S; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., Pischik E; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., Di Pierro E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, Milan, Italy., Barbaro M; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Schmitt C; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France., Gouya L; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France., Colavin A; Invitae Corp, San Francisco, CA 94103, USA., Nussbaum R; Invitae Corp, San Francisco, CA 94103, USA., Friesema ECH; Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Kauppinen R; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain., Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Garton M; Institute of Biomedical Engineering, University of Toronto, ON, Canada.; Institute of Biomaterials and Biomedical Engineering, University of Toronto, ON, Canada., Roth FP; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Feb 06. Date of Electronic Publication: 2023 Feb 06.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: van Serooskerken AM, Ernst M, Bladergroen RS, Wolff C, Floderus Y, Harper P, Poblete-Gutiérrez P, van Geel M, Frank J

المصدر: Journal of dermatological science [J Dermatol Sci] 2011 Jan; Vol. 61 (1), pp. 75-7. Date of Electronic Publication: 2010 Jul 30.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-569X (Electronic) Linking ISSN: 09231811 NLM ISO Abbreviation: J Dermatol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 1*, Flavoproteins/*genetics , Mitochondrial Proteins/*genetics , Porphyria, Variegate/*genetics , Protoporphyrinogen Oxidase/*genetics , Sequence Deletion/*genetics, Chile ; Haplotypes ; Humans ; Pedigree ; Sequence Analysis, DNA ; Sweden

المؤلفون: Tjensvoll K; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway., Bruland O, Floderus Y, Skadberg Ø, Sandberg S, Apold J

المصدر: Disease markers [Dis Markers] 2003-2004; Vol. 19 (1), pp. 41-6.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 8604127 Publication Model: Print Cited Medium: Print ISSN: 0278-0240 (Print) Linking ISSN: 02780240 NLM ISO Abbreviation: Dis Markers Subsets: MEDLINE

مواضيع طبية MeSH: Haplotypes* , Mutation*, Hydroxymethylbilane Synthase/*genetics , Porphyria, Acute Intermittent/*genetics, Founder Effect ; Gene Frequency ; Humans ; Microsatellite Repeats ; Norway ; Polymorphism, Single Nucleotide/genetics ; Polymorphism, Single-Stranded Conformational ; Sweden

عنوان ترانسليتريتد: Bäst förebygga vid akut intermittent porfyri. Tidig diagnos och rådgivning till anlagsbäraren viktigast.

المؤلفون: Floderus Y; Medicinkliniken, Södersjukhuset, Stockholm., Harper P, Henrichson A, Thunell S, Andersson D

المصدر: Lakartidningen [Lakartidningen] 1998 Jun 24; Vol. 95 (26-27), pp. 3045-50.

نوع المنشور: English Abstract; Journal Article; Review

بيانات الدورية: Publisher: Sveriges Lakarforbund Country of Publication: Sweden NLM ID: 0027707 Publication Model: Print Cited Medium: Print ISSN: 0023-7205 (Print) Linking ISSN: 00237205 NLM ISO Abbreviation: Lakartidningen Subsets: MEDLINE

مواضيع طبية MeSH: Porphyria, Acute Intermittent/*prevention & control, Genetic Counseling ; Humans ; Porphyria, Acute Intermittent/diagnosis ; Porphyria, Acute Intermittent/epidemiology ; Porphyria, Acute Intermittent/genetics ; Prevalence ; Risk Factors ; Sweden/epidemiology

عنوان ترانسليتريتد: Porfyri--minering i metabolismen.

المؤلفون: Floderus Y; Porfyricentrum Sverige, S:t Görens sjukhus., Harper P, Henrichson A, Thunell S

المصدر: Lakartidningen [Lakartidningen] 1998 Jun 17; Vol. 95 (25), pp. 2932-5.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sveriges Lakarforbund Country of Publication: Sweden NLM ID: 0027707 Publication Model: Print Cited Medium: Print ISSN: 0023-7205 (Print) Linking ISSN: 00237205 NLM ISO Abbreviation: Lakartidningen Subsets: MEDLINE

مواضيع طبية MeSH: Porphyrias*/diagnosis , Porphyrias*/genetics , Porphyrias*/metabolism, Counseling ; Heme/genetics ; Humans ; Regional Medical Programs ; Social Support ; Sweden

المؤلفون: Lannfelt L; Karolinska Institutet, Psykiatriska kliniken, S:t Görans sjukhus, Stockholm., Wetterberg L, Gellerfors P, Lilius L, Floderus Y, Thunell S

المصدر: Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie [J Clin Chem Clin Biochem] 1989 Nov; Vol. 27 (11), pp. 857-62.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 7701860 Publication Model: Print Cited Medium: Print ISSN: 0340-076X (Print) Linking ISSN: 0340076X NLM ISO Abbreviation: J Clin Chem Clin Biochem Subsets: MEDLINE

مواضيع طبية MeSH: Ammonia-Lyases/*genetics , Erythrocytes/*enzymology , Hydroxymethylbilane Synthase/*genetics , Liver Diseases/*enzymology , Porphyrias/*enzymology, Cross Reactions ; Enzyme-Linked Immunosorbent Assay ; Female ; Heterozygote ; Humans ; Hydroxymethylbilane Synthase/metabolism ; Liver Diseases/genetics ; Male ; Mutation ; Pedigree ; Porphyrias/genetics ; Uroporphyrinogens/analysis