المؤلفون: Wang, Bruce, Ventura, Paolo, Takase, Kei-ichiro, Thapar, Manish, Cassiman, David, Kubisch, Ilja, Liu, Shangbin, Sweetser, Marianne T, Balwani, Manisha

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Clinical Trials and Supportive Activities, Peripheral Neuropathy, Neurosciences, Chronic Pain, Digestive Diseases, Hematology, Neurodegenerative, Clinical Research, Pain Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Cost of Illness, Hemin, Humans, Pain, Porphobilinogen, Porphobilinogen Synthase, Porphyria, Acute Intermittent, Porphyrias, Hepatic, Quality of Life, Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5788873zTest

المؤلفون: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/126628ee581049f09f0b982642040408Test

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

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

مصطلحات موضوعية: chronic symptoms, disease burden, hepatic complications, porphyria attack, porphyrias, prospective studies, ACUTE INTERMITTENT PORPHYRIA, QUALITY-OF-LIFE, EORTC QLQ-C30, RECOMMENDATIONS, QUESTIONNAIRE, ATTACKS, COMPLICATIONS, MANAGEMENT, DIAGNOSIS, VALIDITY, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Alnylam Pharmaceuticals; Cassiman , D , Kauppinen , R , Monroy , S , Lee , M-J , Bonkovsky , H L , Thapar , M , Guillen-Navarro , E , Minder , A-E , Hale , C , Sweetser , M T & Ivanova , A 2022 , ' EXPLORE B : A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 6 . https://doi.org/10.1002/jimd.12551Test; 549d5627-58c6-47a6-8616-88dbfe35436e; http://hdl.handle.net/10138/354211Test; 000857816300001

الإتاحة: http://hdl.handle.net/10138/354211Test

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

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

مصطلحات موضوعية: COMPLICATIONS, QUESTIONNAIRE, Pain, hepatic complications, EORTC QLQ-C30, chronic symptoms, DIAGNOSIS, ACUTE INTERMITTENT PORPHYRIA, prospective studies, RECOMMENDATIONS, Porphyrias, Hepatic, disease burden, QUALITY-OF-LIFE, Porphyria, Acute Intermittent, 3121 General medicine, internal medicine and other clinical medicine, Genetics, Quality of Life, porphyria attack, MANAGEMENT, Humans, Hemin, VALIDITY, Genetics (clinical), ATTACKS, porphyrias

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ba88da64a03ddf281cdff0f121d88dTest
http://hdl.handle.net/10138/354211Test

المؤلفون: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani

المصدر: Orphanet Journal of Rare Diseases, vol 17, iss 1

مصطلحات موضوعية: Acute Porphyrias, Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Porphobilinogen, Neurodegenerative, Research & Experimental Medicine, ACUTE INTERMITTENT PORPHYRIA, Hepatic, Cost of Illness, Envision, Pharmacology (medical), Genetics (clinical), Burden, Acute Porphyrias, Envision, Genetics & Heredity, Pain Research, PAIN, Hematology, Disease burden, General Medicine, LIVER-TRANSPLANTATION, Porphyria attack, Medicine, Research & Experimental, 6.1 Pharmaceuticals, Hemin, Chronic Pain, Life Sciences & Biomedicine, Quality of life, Clinical Trials and Supportive Activities, Pain, Burden, Porphyrias, Clinical Research, Acute hepatic porphyria, Genetics, MANAGEMENT, Humans, Peripheral Neuropathy, Givosiran, Other Medical and Health Sciences, Science & Technology, Porphyria, Chronic symptoms, Neurosciences, Evaluation of treatments and therapeutic interventions, Porphobilinogen Synthase, Acute Intermittent, Porphyrias, Hepatic, Porphyria, Acute Intermittent, Quality of Life, UPDATE, Digestive Diseases, ATTACKS

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3dcc4a34a20afd30da2fd2112dd67d6Test
https://hdl.handle.net/11380/1261337Test

المؤلفون: Sardh, Eliane

المساهمون: Karolinska Institutet, Department of Clinical Science and Education, Södersjukhuset, Publisher, Karolinska Institutet, Institutionen för klinisk forskning och utbildning, Södersjukhuset, Publisher

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Acute intermittent porphria, porphobilinogen, 5-aminolevulinic acid, porphobilinogen deaminase, enzyme therapy, acute porphyria attack, chronic active disease, late complications

وصف الملف: electronic

الوصول الحر: http://hdl.handle.net/10616/40065Test

المؤلفون: Anne-Moon van Tuyll van Serooskerken, Pamela Poblete-Gutiérrez, Jorge Frank

المساهمون: Dermatologie, RS: GROW - School for Oncology and Reproduction

المصدر: Skin Pharmacology and Physiology, 23(1), 18-28. S. Karger AG

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Acute porphyria attack, Physiology, Heme biosynthesis, Heme, Dermatology, Computational biology, Biology, Porphyrias, Investigative tools, Photosensitivity, medicine, Animals, Humans, Enzyme Replacement Therapy, Molecular therapeutics, skin and connective tissue diseases, Pharmacology, Porphyria, Skin Diseases, Genetic, nutritional and metabolic diseases, Genetic Therapy, General Medicine, medicine.disease, Disease Models, Animal, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc946244fd7ce8a4987573fbee3c9d3Test
https://doi.org/10.1159/000257260Test

المؤلفون: van Serooskerken, Anne-Moon van Tuyll, Poblete-Gutierrez, P., Frank, J.

المصدر: van Serooskerken , A-M V T , Poblete-Gutierrez , P & Frank , J 2010 , ' The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies ' , Skin Pharmacology and Physiology , vol. 23 , no. 1 , pp. 18-28 . https://doi.org/10.1159/000257260Test

مصطلحات موضوعية: Porphyria, Heme biosynthesis, Photosensitivity, Acute porphyria attack, Investigative tools, Molecular therapeutics

الإتاحة: https://doi.org/10.1159/000257260Test
https://cris.maastrichtuniversity.nl/en/publications/4f345d72-3e7d-4144-8b4b-5f027d2d64a8Test