نتائج البحث - "Raili Kauppinen"

المصدر: Gouya, L, Ventura, P, Balwani, M, Bissell, D M, Rees, D C, Stölzel, U, Phillips, J D, Kauppinen, R, Langendonk, J G, Desnick, R J, Deybach, J C, Bonkovsky, H L, Parker, C, Naik, H, Badminton, M, Stein, P E, Minder, E, Windyga, J, Bruha, R, Cappellini, M D, Sardh, E, Harper, P, Sandberg, S, Aarsand, A K, Andersen, J, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Ko, J, Penz, C, Liu, S, Lin, T, Simon, A & Anderson, K E 2019, ' EXPLORE : A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks ', Hepatology . https://doi.org/10.1002/hep.30936Test
Hepatology, 71(5), 1546-1558. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)

مصطلحات موضوعية: Male, 0301 basic medicine, CHRONIC KIDNEY-DISEASE, SYMPTOMS, medicine.medical_treatment, Disease, Liver transplantation, ACUTE INTERMITTENT PORPHYRIA, RECOMMENDATIONS, 0302 clinical medicine, Quality of life, Recurrence, HEPATOCELLULAR-CARCINOMA, Medicine, Prospective Studies, Young adult, Prospective cohort study, Acute intermittent porphyria, DELTA-AMINOLEVULINIC-ACID, heme biosynthesis, Middle Aged, LIVER-TRANSPLANTATION, 3. Good health, Female, 030211 gastroenterology & hepatology, Natural history study, Genetic diseases, Adult, medicine.medical_specialty, Heme biosynthesis, Article, Young Adult, 03 medical and health sciences, Acute hepatic porphyria, Internal medicine, Humans, neurovisceral attacks, Disease burden, Aged, Hepatology, business.industry, Porphobilinogen Synthase, medicine.disease, Porphyrias, Hepatic, Mutations in genes, δ-aminolevulinic acid, 030104 developmental biology, 3121 General medicine, internal medicine and other clinical medicine, porphobilinogen, UPDATE, AUDIT, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4d56697a99116329133661e8d7e805Test
http://hdl.handle.net/10138/316254Test

7

Penetrance and predictive value of genetic screening in acute porphyria

المؤلفون: Raili Kauppinen, K. Baumann

المساهمون: Faculty of Medicine, Helsinki University Hospital Area, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, HUS Internal Medicine and Rehabilitation, Department of Medicine, Clinicum

المصدر: Molecular genetics and metabolism. 130(1)

مصطلحات موضوعية: 0301 basic medicine, Male, Variegate porphyria, Delayed Diagnosis, Endocrinology, Diabetes and Metabolism, GENOTYPE-PHENOTYPE CORRELATION, DNA Mutational Analysis, Penetrance, 030105 genetics & heredity, ACUTE INTERMITTENT PORPHYRIA, Biochemistry, Group B, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, Diagnosis, Registries, 10. No inequality, DELTA-AMINOLEVULINIC-ACID, Acute intermittent porphyria, Aged, 80 and over, medicine.diagnostic_test, 1184 Genetics, developmental biology, physiology, Middle Aged, Prognosis, 3. Good health, Hospitalization, MANIFESTATIONS, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Genotype, Acute porphyria, Asymptomatic, 03 medical and health sciences, Internal medicine, Genetic screening, MANAGEMENT, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, CLINICAL EXPRESSION, Genetic testing, Aged, Retrospective Studies, Acute attack, business.industry, Retrospective cohort study, medicine.disease, Porphyria, 3121 General medicine, internal medicine and other clinical medicine, Porphyria, Acute Intermittent, Asymptomatic Diseases, Mutation, BIOCHEMICAL CHARACTERISTICS, 3111 Biomedicine, business, PORPHOBILINOGEN, ATTACKS, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964687601cdd85571ce3eb4e07ab401aTest
https://pubmed.ncbi.nlm.nih.gov/32067921Test

8

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

المساهمون: Internal Medicine

المصدر: Genetics in Medicine, 21(11), 2605-2613. Lippincott Williams & Wilkins
Genet Med

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Databases, Factual, Porphobilinogen deaminase, Variegate porphyria, Hydroxymethylbilane Synthase, 030105 genetics & heredity, computer.software_genre, Article, 03 medical and health sciences, Coproporphyrinogen Oxidase, Porphyrias, medicine, Humans, Pathology, Molecular, skin and connective tissue diseases, Genetics (clinical), Data Curation, Acute intermittent porphyria, Database, Virulence, business.industry, nutritional and metabolic diseases, Porphobilinogen Synthase, medicine.disease, Human genetics, United States, Porphyrias, Hepatic, 030104 developmental biology, Porphyria, Hereditary coproporphyria, Porphyria, Acute Intermittent, Female, business, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f2f2b4a47181e8781f744c1a6e1660Test
https://pure.eur.nl/en/publications/2e8660e2-4fa5-4786-bb8b-7476fb2b2685Test

9

Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial

المصدر: Sardh, E, Gouya, L, Rees, D C, Stein, P, Stoelzel, U, Aguilera Peiro, P, Bissell, D M, Bonkovsky, H L, Keel, S, Parker, C, Phillips, J D, Silver, S, Windyga, J, D'Avola, D, Ross, G, Stewart, P, Ritchie, B, Oh, J, Harper, P, Wang, J D, Langendonk, J G, Ivanova, A, Horie, Y, Anderson, K E, Ventura, P, Kauppinen, R, Vassiliou, D, Wang, B, Hother-Nielsen, O, Nakahara, T, Lee, M J, Sasapu, A, Scalera, S, Lin, T, Penz, C, Simon, A, Ko, J & Balwani, M 2020, ' Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients : ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial ', Digestive and Liver Disease, vol. 52, no. Suppl. 1, pp. E35 . https://doi.org/10.1016/j.dld.2019.12.123Test

مصطلحات موضوعية: Double blind, Acute hepatic porphyria, Pediatrics, medicine.medical_specialty, Hepatology, Quality of life, business.industry, Gastroenterology, Placebo-controlled study, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3c86a09a54fd6ef507322b981490ddTest
https://doi.org/10.1016/j.dld.2019.12.123Test

10

FRI-442-Acute hepatic porphyria disease manifestations and daily life impacts in EXPLORE international, prospective, natural history study

المصدر: Journal of Hepatology. 70:e589-e590

مصطلحات موضوعية: Acute hepatic porphyria, Pediatrics, medicine.medical_specialty, Hepatology, business.industry, Medicine, Disease, business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::829711a9a809cb3714440db522cb2e55Test
https://doi.org/10.1016/s0618-8278Test(19)31179-x

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