Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

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

van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P.

Am J Hum Genet ; 110(10): 1769-1786, 2023 10 05.

Artigo em Inglês | MEDLINE | ID: mdl-37729906

2.

Long-term complications in acute porphyria.

Pischik, Elena; Lissing, Mattias; Pallet, Nicolas; Kauppinen, Raili.

Liver Int ; 2024 May 31.

Artigo em Inglês | MEDLINE | ID: mdl-38819621

3.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

Balwani, Manisha; Sardh, Eliane; Ventura, Paolo; Peiró, Paula Aguilera; Rees, David C; Stölzel, Ulrich; Bissell, D Montgomery; Bonkovsky, Herbert L; Windyga, Jerzy; Anderson, Karl E; Parker, Charles; Silver, Samuel M; Keel, Siobán B; Wang, Jiaan-Der; Stein, Penelope E; Harper, Pauline; Vassiliou, Daphne; Wang, Bruce; Phillips, John; Ivanova, Aneta; Langendonk, Janneke G; Kauppinen, Raili; Minder, Elisabeth; Horie, Yutaka; Penz, Craig; Chen, Jihong; Liu, Shangbin; Ko, John J; Sweetser, Marianne T; Garg, Pushkal; Vaishnaw, Akshay; Kim, Jae B; Simon, Amy R; Gouya, Laurent.

N Engl J Med ; 382(24): 2289-2301, 2020 06 11.

Artigo em Inglês | MEDLINE | ID: mdl-32521132

4.

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.

Cassiman, David; Kauppinen, Raili; Monroy, Susana; Lee, Ming-Jen; Bonkovsky, Herbert L; Thapar, Manish; Guillén-Navarro, Encarna; Minder, Anna-Elisabeth; Hale, Cecilia; Sweetser, Marianne T; Ivanova, Aneta.

J Inherit Metab Dis ; 45(6): 1163-1174, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-36069414

5.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya, Laurent; Ventura, Paolo; Balwani, Manisha; Bissell, D Montgomery; Rees, David C; Stölzel, Ulrich; Phillips, John D; Kauppinen, Raili; Langendonk, Janneke G; Desnick, Robert J; Deybach, Jean-Charles; Bonkovsky, Herbert L; Parker, Charles; Naik, Hetanshi; Badminton, Michael; Stein, Penelope E; Minder, Elisabeth; Windyga, Jerzy; Bruha, Radan; Cappellini, Maria Domenica; Sardh, Eliane; Harper, Pauline; Sandberg, Sverre; Aarsand, Aasne K; Andersen, Janice; Alegre, Félix; Ivanova, Aneta; Talbi, Neila; Chan, Amy; Querbes, William; Ko, John; Penz, Craig; Liu, Shangbin; Lin, Tim; Simon, Amy; Anderson, Karl E.

Hepatology ; 71(5): 1546-1558, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-31512765

6.

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

Chen, Brenden; Whatley, Sharon; Badminton, Michael; Aarsand, Aasne K; Anderson, Karl E; Bissell, D Montgomery; Bonkovsky, Herbert L; Cappellini, Maria D; Floderus, Ylva; Friesema, Edith C H; Gouya, Laurent; Harper, Pauline; Kauppinen, Raili; Loskove, Yonina; Martásek, Pavel; Phillips, John D; Puy, Hervé; Sandberg, Sverre; Schmitt, Caroline; To-Figueras, Jordi; Weiss, Yedidyah; Yasuda, Makiko; Deybach, Jean-Charles; Desnick, Robert J.

Genet Med ; 21(11): 2605-2613, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31073229

7.

Afamelanotide for Erythropoietic Protoporphyria.

Langendonk, Janneke G; Balwani, Manisha; Anderson, Karl E; Bonkovsky, Herbert L; Anstey, Alexander V; Bissell, D Montgomery; Bloomer, Joseph; Edwards, Chris; Neumann, Norbert J; Parker, Charles; Phillips, John D; Lim, Henry W; Hamzavi, Iltefat; Deybach, Jean-Charles; Kauppinen, Raili; Rhodes, Lesley E; Frank, Jorge; Murphy, Gillian M; Karstens, Francois P J; Sijbrands, Eric J G; de Rooij, Felix W M; Lebwohl, Mark; Naik, Hetanshi; Goding, Colin R; Wilson, J H Paul; Desnick, Robert J.

N Engl J Med ; 373(1): 48-59, 2015 Jul 02.

Artigo em Inglês | MEDLINE | ID: mdl-26132941

8.

Pathogenesis of acute encephalopathy in acute hepatic porphyria.

Pischik, Elena; Baumann, Katrin; Karpenko, Alla; Kauppinen, Raili.

J Neurol ; 270(5): 2613-2630, 2023 May.

Artigo em Inglês | MEDLINE | ID: mdl-36757574

9.

Effects of rifampicin on porphyrin metabolism in healthy volunteers.

Tolonen, Hanna; Ranta, Sirpa; Hämäläinen, Esa; Kauppinen, Raili; Hukkanen, Janne.

Basic Clin Pharmacol Toxicol ; 132(3): 281-291, 2023 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-36535687

10.

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

van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P.

bioRxiv ; 2023 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-36798224

11.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Clavero, Sonia; Bishop, David F; Haskins, Mark E; Giger, Urs; Kauppinen, Raili; Desnick, Robert J.

Hum Mol Genet ; 19(4): 584-96, 2010 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-19934113

12.

[Erythropoietic porphyrias]. / Erytropoieettiset porfyriat.

Timonen, Kaisa; Nuutinen, Pauliina; Kauppinen, Raili.

Duodecim ; 128(12): 1257-63, 2012.

Artigo em Fi | MEDLINE | ID: mdl-22822601

13.

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.

Baumann, Katrin; Kauppinen, Raili.

Mol Genet Metab Rep ; 30: 100842, 2022 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-35242573

14.

Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?

Pischik, Elena; Kazakov, Valery; Kauppinen, Raili.

J Neurol ; 255(7): 974-9, 2008 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-18574620

15.

Porphyrias.

Kauppinen, Raili.

Lancet ; 365(9455): 241-52, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-15652607

16.

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.

Pischik, Elena; Mehtälä, Susanna; Kauppinen, Raili.

Hum Mutat ; 26(5): 496, 2005 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-16211556

17.

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.

Fraunberg, Mikael von Und Zu; Pischik, Elena; Udd, Lina; Kauppinen, Raili.

Medicine (Baltimore) ; 84(1): 35-47, 2005 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-15643298

18.

An update of clinical management of acute intermittent porphyria.

Pischik, Elena; Kauppinen, Raili.

Appl Clin Genet ; 8: 201-14, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26366103

19.

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

von und zu Fraunberg, Mikael; Timonen, Kaisa; Mustajoki, Pertti; Kauppinen, Raili.

Eur J Hum Genet ; 10(10): 649-57, 2002 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-12357337

20.

Molecular diagnostics of acute intermittent porphyria.

Kauppinen, Raili.

Expert Rev Mol Diagn ; 4(2): 243-9, 2004 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-14995910

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

Long-term complications in acute porphyria.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

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

Afamelanotide for Erythropoietic Protoporphyria.

Pathogenesis of acute encephalopathy in acute hepatic porphyria.

Effects of rifampicin on porphyrin metabolism in healthy volunteers.

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

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

[Erythropoietic porphyrias]. / Erytropoieettiset porfyriat.

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.

Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?

Porphyrias.

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.

An update of clinical management of acute intermittent porphyria.

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

Molecular diagnostics of acute intermittent porphyria.