Results 81 to 90 of about 789 (146)

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. [PDF]

Hepatol Commun
Ricci A, Corradini E, Buzzetti E, Pietrangelo A, Pietrangelo A, Ventura P, Modena Centre of Rare Diseases - Porphyria Working Group.   +6 more
europepmc   +1 more source

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023). [PDF]

J Int Med Res
Martínez-Ávila MC, Matijasevic-Arcila E, Pantoja-Chica S, Acosta-Cardozo AL.   +3 more
europepmc   +1 more source

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis. [PDF]

Mol Genet Metab Rep
Vizerov T, Demina N, Ponomarev R, Lukina E, Pshenichnikova O, Selivanova D, Tabakov V, Ryzhkova O.   +7 more
europepmc   +1 more source

Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study. [PDF]

Sci Rep
Ozaki N, Goto Y, Fujii N, Oyama T, Frascello K, Camejo A, Adachi T.   +6 more
europepmc   +1 more source

Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes. [PDF]

Cureus
Vázquez-Folch SJ, Jimenez-Berrios GA, Izquierdo N, Vazquez V.   +3 more
europepmc   +1 more source

Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias. [PDF]

Biosci Rep
Schedlbauer A, Kratzwald S, Gómez-Galán M, Gil-Martínez J, San Juan I, Pereira-Ortuzar T, Lopitz-Otsoa F, Fernandez-Ramos D, Mato JM, Millet O.   +9 more
europepmc   +1 more source

A 38-year-Old Woman With Flaccid Tetraparesis after Presenting With Abdominal Pain. [PDF]

Neurohospitalist
Rodrigues Dal Bo C, Miranda Menezes J, Gabriela Gomes Silva B, Dos Santos SIF, Petrucelli Doher M, de Araújo Gleizer R.   +5 more
europepmc   +1 more source

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension. [PDF]

Med Sci (Basel)
de Lima Serrano P, de Mattos Lombardi Badia B, Barile JP, Mendes PM, Cavalheiro RBR, Peixoto KO, Farias IB, Machado RIL, Seneor DD, de Rezende Pinto WBV, Oliveira ASB, Sgobbi P.   +11 more
europepmc   +1 more source

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Variegate Porphyria

Journal of Dermatology, 2004
AbstractVariegate porphyria is a rare, hereditary form of hepatic porphyria characterized by acute systemic symptoms as in acute intermittent porphyria in addition to cutaneous symptoms simulating porphyria cutanea tarda. We describe a 22‐year‐old female from India who first presented to the emergency department with acute symptoms and was later ...
Kamaldeep, Sandhu, Bhushan, Kumar
exaly   +4 more sources

Variegate Porphyria

Seminars in Liver Disease, 1998
Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa.
Richard Hift, Peter N Meissner, R E Kirsch   +2 more
exaly   +3 more sources