Zobrazeno 1 - 10
of 283
pro vyhledávání: '"acute porphyria"'
Autor:
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 104-113 (2023)
Abstract Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being. This study evaluated the impacts of AHP
Externí odkaz:
https://doaj.org/article/887c80c7c03843749b79f3357324015a
Autor:
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 10-16 (2023)
Abstract Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme
Externí odkaz:
https://doaj.org/article/8b1c4c929a8f4366a72bf93691d03550
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdomina
Externí odkaz:
https://doaj.org/article/383cb065b29a42e991918ffd65cda0aa
Autor:
Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao, Xiaoqing Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Abstract Background Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown.
Externí odkaz:
https://doaj.org/article/5d97358d010d48b2b9f909490233c3bf
Publikováno v:
Therapeutics and Clinical Risk Management, Vol Volume 15, Pp 1443-1451 (2019)
Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4 1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt Uni
Externí odkaz:
https://doaj.org/article/76bfd3ecc1a74991b422d6002bbef0f9
Autor:
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel
Publikováno v:
Brain and Behavior, Vol 11, Iss 11, Pp n/a-n/a (2021)
Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis a
Externí odkaz:
https://doaj.org/article/f34b13f667764ceabf9929202318d941
Publikováno v:
Journal of Pediatric Critical Care, Vol 8, Iss 5, Pp 243-245 (2021)
Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG. AIP is rarely associated with posterior reversible encephalopathy
Externí odkaz:
https://doaj.org/article/5749b5ae2bb74b49907659e111671cae
Autor:
N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick
Publikováno v:
BMC Research Notes, Vol 11, Iss 1, Pp 1-5 (2018)
Abstract Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of sy
Externí odkaz:
https://doaj.org/article/b04496c07a9d4050ad610734e60292a9
Akademický článek
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Autor:
Angelika L. Erwin, Manisha Balwani
Publikováno v:
Diagnostics, Vol 11, Iss 10, p 1795 (2021)
The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as
Externí odkaz:
https://doaj.org/article/7a80e0ff2df24e84914e709cdb4615da