Results 81 to 90 of about 13,719 (226)
Przegląd Dermatologiczny, 2019 Porphyria cutanea tarda belongs to the group of porphyrias. Porphyria is a heme disorder caused by an acquired or congenital defect of hepatic enzymes. This consequently leads to the accumulation of porphyrins in various organs.
Marcela Nowak +3 more
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Acute Intermittent Porphyria: Current Perspectives And Case Presentation
, 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 ...
Wilder J +3 more
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Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]
Liaquat National Journal of Primary CareA deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi +2 more
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Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
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Journal of Education, Health and SportIntroduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba +3 more
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Journal of Pediatric Critical Care, 2016 Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj +2 more
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International Journal of Clinical Practice, 1993 SUMMARYThe porphyrias are a heterogeneous group of rare inborn errors of metabolism caused by inherited enzyme defects in the haem biosynthetic pathway, resulting in overproduction of porphyrins. The porphyrias can be distinguished biochemically but may be difficult to differentiate clinically.
G Y, Lip, K E, McColl, M R, Moore
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An update of clinical management of acute intermittent porphyria
, 2015 Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St ...
Pischik E, Kauppinen R
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