Results 71 to 80 of about 789 (146)

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]

J Med Case Rep
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +1 more source

Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report. [PDF]

Am J Case Rep
Conroy PB, Davel S, Malherbe JAJ, Carrivick SJ, Briggs EN.   +4 more
europepmc   +1 more source

Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report. [PDF]

J Med Case Rep
Sharma A, Chawla Y, Atam V, Srivastava S.   +3 more
europepmc   +1 more source

Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria. [PDF]

Cureus
Roldão M, Soares Dionísio A, Duarte J, Salgadinho Machado A, Anastácio M.   +4 more
europepmc   +1 more source

Acute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening. [PDF]

Neurohospitalist
Yuvasai KP, Singh S, Pai PJ, Erla SR, Pannu AK.   +4 more
europepmc   +1 more source

A case of variegate porphyria in association with coeliac disease and bisphosphonate associated dental osteonecrosis. [PDF]

J Clin Med Res, 2009
Ogundipe OA.
europepmc   +1 more source

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening. [PDF]

Orphanet J Rare Dis
Musayeva G, İşat E, Yıldız M, Cansever MŞ, Uğurlu S, Alkaya DU, Şahin S, Barut K, Kıykım E, Aktuğlu-Zeybek Ç, Kasapçopur Ö, Zubarioglu T.   +11 more
europepmc   +1 more source

Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan. [PDF]

Orphanet J Rare Dis
Wu WC, Yeh YH, Li CC, Wang YT, Chang YF, Chang CS, Wang RH, Wang JD, Kuo HC, Chen CH, Wu CH.   +10 more
europepmc   +1 more source

Real-World Experience With Givosiran in Acute Porphyrias: A Narrative Review and a Novel Hypothesis. [PDF]

Cureus
Petrides PE.
europepmc   +1 more source

Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood. [PDF]

ACG Case Rep J
Alsaleh T, Mohammed A, Karnam M, Roman T.   +3 more
europepmc   +1 more source