Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report. [PDF]
Peshin S +6 more
europepmc +1 more source
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]
Schacht G +6 more
europepmc +1 more source
Bin Zhang,1,2 Chunqing Bu,3 Yuying Zhao,4 Zhangyong Xia1,5– 7 1Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, People’s Republic of China; 2Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong, People’s ...
Xia Z, Bu C, Zhang B, Zhao Y
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Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation. [PDF]
Stölzel U +5 more
europepmc +1 more source
Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report. [PDF]
Thanigasalan M.
europepmc +1 more source
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening. [PDF]
Musayeva G +11 more
europepmc +1 more source
Constipation with megacolon or acute porphyria. [PDF]
Chen J, Zhou S, Chen Q, Tian H.
europepmc +1 more source
Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria. [PDF]
Roldão M +4 more
europepmc +1 more source

