Works matching Porphyria and genetics

Results: 126

Role of genetic testing in the management of patients with inherited porphyria and their families.

Published in:

Annals of Clinical Biochemistry, 2013, v. 50, n. 3, p. 204, doi. 10.1177/0004563212473278

By:

Whatley, S. D.;
Badminton, M. N.

Publication type:

Article

Practical recommendations for biochemical and genetic diagnosis of the porphyrias.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.16012

By:

Aarsand, Aasne K.;
To‐Figueras, Jordi;
Whatley, Sharon;
Sandberg, Sverre;
Schmitt, Caroline

Publication type:

Article

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03287-7

By:

Wang, Yinan;
Li, Nuoya;
Zhang, Songyun

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #596 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Uroporphyrinogen-Decarboxylase in Erythrocyten Untersuchungen zum primären genetischen Enzymdefekt bei chronischer hepatischer Porphyrie.

Published in:

Clinical Chemistry & Laboratory Medicine, 1978, v. 16, n. 9, p. 513

By:

Tiepermann, R. v.;
Doss, M.

Publication type:

Article

A Genetic Study of Two Families Having the Acute Intermittent Type of Porphyria.

Published in:

Annals of Internal Medicine, 1961, v. 55, n. 1, p. 81, doi. 10.7326/0003-4819-55-1-81

By:

Ludwig, George D.;
Epstein, I. Selig

Publication type:

Article

Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2021, v. 37, n. 3, p. 236, doi. 10.1111/phpp.12641

By:

Snast, Igor;
Kaftory, Ran;
Lapidoth, Moshe;
Mamet, Rivka;
Hodak, Emmilia;
Edel, Yonatan;
Levi, Assi

Publication type:

Article

Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 8, p. 479, doi. 10.1038/jhg.2009.67

By:

Di Pierro, Elena;
Brancaleoni, Valentina;
Besana, Valeria;
Cappellini, Maria Domenica

Publication type:

Article

Familial and Sporadic Porphyria Cutanea Tarda:Clinical, Biochemical and Genetic Features with Emphasis on Iron Status.

Published in:

Acta Dermato-Venereologica, 2003, v. 83, n. 2, p. 115, doi. 10.1080/00015550310007454

By:

Bygum, Anette;
Chrisiansen, Lene;
Petersen, Niels Erik;
Hørder, Mogens;
Thomsen, Kristian;
Brandrup, Flemming

Publication type:

Article

Genetic carrier detection in Norwegian families with acute intermittent porphyria.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1993, v. 53, n. 7, p. 687, doi. 10.3109/00365519309092572

By:

Sagen, E.;
Lægreid, A.;
Anvret, M.;
Lundin, G.;
Lannfelt, L.;
Lilius, L.;
Floderus, Y.;
Romslo, I.

Publication type:

Article

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Published in:

Australasian Journal of Dermatology, 2013, v. 54, n. 2, p. e50, doi. 10.1111/j.1440-0960.2011.00875.x

By:

Rudd, Alice;
Grant, Janine;
Varigos, George;
Morgan, Vanessa;
Winship, Ingrid

Publication type:

Article

Porphyria cutanea tarda: an intriguing genetic disease and marker.

Published in:

International Journal of Dermatology, 2017, v. 56, n. 6, p. e106, doi. 10.1111/ijd.13580

By:

Handler, Nancy S.;
Handler, Marc Z.;
Stephany, Matthew P.;
Handler, Glenn A.;
Schwartz, Robert A.

Publication type:

Article

Genetic haemochromatosis presenting as porphyria cutanea tarda.

Published in:

2005

By:

Syn W;
Ahmed MM

Publication type:

Journal Article

Genetic haemochromatosis presenting as porphyria cutanea tarda.

Published in:

International Journal of Clinical Practice (Supplement), 2005, v. 59, p. 48, doi. 10.1111/j.1742-1241.2004.00217.x

By:

Syn, W.-K.;
Ahmed, M. M.

Publication type:

Article

ABNORMAL STEROID HORMONE METABOLISM IN THE GENETIC LIVER DISEASE ACUTE INTERMITTENT PORPHYRIA*.

Published in:

Annals of the New York Academy of Sciences, 1971, v. 179, n. 1, p. 611, doi. 10.1111/j.1749-6632.1971.tb46937.x

By:

Kappas, Attallah;
Bradlow, H. Leon;
Gillette, Peter N.;
Gallagher, T. F.

Publication type:

Article

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.

Published in:

British Journal of Dermatology, 1990, v. 122, n. 3, p. 365, doi. 10.1111/j.1365-2133.1990.tb08285.x

By:

Kószó, F.;
Elder, G.H.;
Roberts, A.;
Simon, N.

Publication type:

Article

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2006, v. 20, n. 8, p. 974, doi. 10.1111/j.1468-3083.2006.01705.x

By:

Lecha, M.;
Badenas, C.;
Puig, S.;
Orfila, J.;
Milà, M.;
To-Figueras, J.;
Muñoz, C.;
Mercader, P.;
Herrero, C.

Publication type:

Article

Diagnosis of latent acute intermittent porphyria by genetic analysis.

Published in:

Annals of Clinical Biochemistry, 2001, v. 38, n. 2, p. 149, doi. 10.1258/0004563011900344

By:

De Siervi, Adriana;
Varela, Laura S.;
Parera, Victoria E.;
del C. Batlle, Alcira M.;
Rossetti, Maria V.

Publication type:

Article

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 91, doi. 10.1111/cge.13558

By:

Goncharova, Maria;
Pshenichnikova, Olesya;
Luchinina, Yulia;
Pustovoit, Yaroslav;
Karpova, Irina;
Surin, Vadim

Publication type:

Article

The second Japanese case of porphyria cutanea tarda with a novel genetic mutation in UROD.

Published in:

Journal of Dermatology (John Wiley & Sons, Inc.), 2021, v. 48, n. 11, p. 1802, doi. 10.1111/1346-8138.16156

By:

Yamada, Mai;
Nakano, Hajime;
Ogita, Azusa;
Saeki, Hidehisa;
Ansai, Shin‐ichi

Publication type:

Article

A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Caused Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies on Spanish Patients.

Published in:

Journal of Investigative Dermatology, 1995, v. 104, n. 4, p. 500, doi. 10.1111/1523-1747.ep12605953

By:

Roberts, Andrew G.;
Elder, George H.;
de Salamanca, Rafael E.;
Herrero, Carmen;
Lecha, Mario;
Mascaro, Jose M.

Publication type:

Article

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 59, doi. 10.1007/s10545-009-1059-2

By:

Bonnin, A.;
Picornell, A.;
Orfila, J.;
Castro, J.;
Ramon, M.

Publication type:

Article

Molecular Genetics of Porphyrias.

Published in:

Journal of Laboratory Medicine / Laboratoriums Medizin, 1991, v. 15, n. 9, p. 457

By:

Nordmann, Yves;
Deybach, Jean-Charles

Publication type:

Article

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1059

By:

Martinez, María del Carmen;
Cerbino, Gabriela Nora;
Granata, Bárbara Xoana;
Batlle, Alcira;
Parera, Victoria Estela;
Rossetti, María Victoria

Publication type:

Article

Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.

Published in:

2019

By:

Bronisch, Olivia;
Stauch, Thomas;
Haverkamp, Thomas;
Beykirch, Maria K.;
Petrides, Petro E.

Publication type:

journal article

Valuable insights from molecular genetic studies in the porphyrias.

Published in:

British Journal of Dermatology, 2010, v. 162, n. 3, p. 470, doi. 10.1111/j.1365-2133.2010.09635.x

By:

Frank, J.;
Poblete-Gutiérrez, P.

Publication type:

Article

Genetic landmarks through philately – porphyria and its effect on world history.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 85, doi. 10.1034/j.1399-0004.1999.550203.x

By:

Chudley, Albert E;
Haworth, James C

Publication type:

Article

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1997)9:2<122::AID-HUMU4>3.0.CO;2-B

By:

Nissen, Henrik;
Petersen, Niels Erik;
Mustajoki, Sami;
Hansen, Torben Stiig;
Mustajoki, Pertti;
Kauppinen, Raili;
Hørder, Mogens

Publication type:

Article

Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene.

Published in:

Russian Journal of Genetics, 2010, v. 46, n. 4, p. 476, doi. 10.1134/S1022795410040149

By:

Surin, V. L.;
Luchinina, Yu. A.;
Selivanova, D. S.;
Pustovoit, Ya. S.;
Karpova, I. V.;
Pivnik, A. V.;
Luk'ianenko, A. V.;
Kravchenko, S. K.

Publication type:

Article

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-54

By:

Rossetti, María V.;
Granata, Bárbara X.;
Giudice, Jimena;
Parera, Victoria E.;
Batlle, Alcira

Publication type:

Article

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1889, doi. 10.3390/life13091889

By:

Belosevic, Adrian;
Minder, Anna-Elisabeth;
Gueuning, Morgan;
van Breemen, Franziska;
Thun, Gian Andri;
Mattle-Greminger, Maja P.;
Meyer, Stefan;
Baumer, Alessandra;
Minder, Elisabeth I.;
Schneider-Yin, Xiaoye;
Barman-Aksözen, Jasmin

Publication type:

Article

Recurrence of Acute Intermittent Porphyria After Liver Transplantation.

Published in:

2019

By:

Al-Samkari, Hanny;
Patel, Arpan A.;
Schiano, Thomas D.;
Kuter, David J.

Publication type:

Case Study

Heme Deficiency in Alzheimer's Disease: A Possible Connection to Porphyria.

Published in:

Journal of Biomedicine & Biotechnology, 2006, p. 1, doi. 10.1155/JBB/2006/24038

By:

Dwyer, Barney E.;
Stone, Meghan L.;
Xiongwei Zhu;
Perry, George;
Smith, Mark A.

Publication type:

Article

Porphyria: A suitable case for teaching.

Published in:

Journal of Biological Education (Society of Biology), 1990, v. 24, n. 1, p. 23, doi. 10.1080/00219266.1990.9655096

By:

Hawkey, Roy

Publication type:

Article

Diagnosis and treatment of the hepatic porphyrias.

Published in:

Dermatologic Therapy, 2003, v. 16, n. 1, p. 65, doi. 10.1046/j.1529-8019.2003.01610.x

By:

Lecha, M.;
Herrero, C.;
Ozalla, D.

Publication type:

Article

The cutaneous porphyrias: a review.

Published in:

British Journal of Dermatology, 1999, v. 140, n. 4, p. 573, doi. 10.1046/j.1365-2133.1999.02754.x

By:

MURPHY;
M.Murphy, Gillian

Publication type:

Article

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.

Published in:

International Journal of Dermatology, 2013, v. 52, n. 12, p. 1464, doi. 10.1111/ijd.12305

By:

Horner, Mary E.;
Alikhan, Ali;
Tintle, Suzanne;
Tortorelli, Silvia;
Davis, Dawn Marie R.;
Hand, Jennifer L.

Publication type:

Article

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03606-6

By:

Kaiser, Nadja;
Magg, Janine;
Nägele, Thomas;
Wolf, Nicole;
Krägeloh-Mann, Ingeborg

Publication type:

Article

Porphyrien – eine Übersicht.

Published in:

Die Dermatologie, 2024, v. 75, n. 7, p. 539, doi. 10.1007/s00105-024-05370-3

By:

Lindemann, Hanna;
Diehl-Wiesenecker, Eva;
Gerischer, Lea;
Frank, Jorge

Publication type:

Article

Manifestaciones cutáneas de la porfiria variegata y la coproporfiria hereditaria.

Published in:

Dermatología Revista Mexicana, 2018, v. 62, n. 1, p. 27

By:

D. A., Jaramillo-Calle;
M., Velásquez-Lopera

Publication type:

Article

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1923, doi. 10.3390/life13091923

By:

Di Pierro, Elena;
Perrone, Miriana;
Franco, Milena;
Granata, Francesca;
Duca, Lorena;
Lattuada, Debora;
De Luca, Giacomo;
Graziadei, Giovanna

Publication type:

Article

Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria.

Published in:

Case Reports in Endocrinology, 2018, p. 1, doi. 10.1155/2018/2353172

By:

Latina, Adele;
Terzolo, Massimo;
Pia, Anna;
Reimondo, Giuseppe;
Castellano, Elena;
Pellegrino, Micaela;
Borretta, Giorgio

Publication type:

Article

Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.

Published in:

2025

By:

Conroy, Peter B.;
Davel, Sue;
Malherbe, Jacques A. J.;
Carrivick, Simon J.;
Briggs, Edward N.

Publication type:

Case Study

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Published in:

2019

By:

Barreda-Sánchez, María;
Buendía-Martínez, Juan;
Glover-López, Guillermo;
Carazo-Díaz, Carmen;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Sánchez-Soler, María José;
Rodriguez-Peña, Lidya;
Serrano-Antón, Ana Teresa;
Gil-Ferrer, Remedios;
Martínez-Romero, Maria del Carmen;
Carbonell-Meseguer, Pablo;
Guillén-Navarro, Encarna

Publication type:

journal article

Identification of Mutations in the Uroporphyrinogen III Cosynthase Gene in German Patients with Congenital Erythropoietic Porphyria.

Published in:

Physiological Research, 2006, v. 55, p. S85, doi. 10.33549/physiolres.930000.55.s2.85

By:

Wiederholt, T.;
Poblete-Gutiérrez, P.;
Gardlo, K.;
Goerz, G.;
Bolsen, K.;
Merk, H. F.;
Frank, J.

Publication type:

Article

Demystification of Chester Porphyria: A Nonsense Mutation in the Porphobilinogen Deaminase Gene.

Published in:

Physiological Research, 2006, v. 55, p. S137, doi. 10.33549/physiolres.930000.55.s2.137

By:

Poblete-Gutiérrez, P.;
Wiederholt, T.;
Martinez-Mir, A.;
Merk, H. F.;
Connor, J. M.;
Christiano, A. M.;
Frank, J.

Publication type:

Article

δ-Aminolevulinic acid cytotoxic effects on human hepatocarcinoma cell lines.

Published in:

BMC Cancer, 2002, v. 2, p. 6, doi. 10.1186/1471-2407-2-6

By:

De Siervi, Adriana;
Vazquez, Elba S.;
Rezaval, Carolina;
Rossetti, María V.;
Del Batlle, Alcira M.

Publication type:

Article

Molecular aspects of the inherited porphyrias.

Published in:

2000

By:

Sassa, S.;
Kappas, A.

Publication type:

journal article

Porfiria cutánea tarda en pacientes tratados con hemodiálisis.

Published in:

Dermatología Revista Mexicana, 2012, v. 56, n. 5, p. 318

By:

Tapia Juárez, Malynahi Libertad;
Hierro Orozco, Sagrario;
Achell Nava, Lucía;
Hernández, Víctor Jaimes

Publication type:

Article