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Acute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia. [PDF]

Cureus
Chowdhury S, Weissman B, Lambroussis CG.
europepmc   +1 more source

Heme arginate improves acute liver failure secondary to erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Ni H, Chen B, Huang A, Zhang T, Li H, Tang S.   +5 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

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Marques I, Marcos P.
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Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations. [PDF]

Orphanet J Rare Dis
Schmolly K, Rudrapatna V, Beaven S.
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Autonomic Painful Diabetic Gastropathy Presenting As Recurrent Episodic Abdominal Pain in a Young Man With Type 1 Diabetes: A Case Report. [PDF]

Cureus
Sirivela SS, Yusuf N, Mandaty NA, Kulirankal KG, Moni M.   +4 more
europepmc   +1 more source

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]

Gastroenterol Rep (Oxf)
Stölzel U, Knoppke B, Stauch T, von Eichborn MI, Bonkovsky HL, Melter M.   +5 more
europepmc   +1 more source

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Acute Intermittent Porphyria

Seminars in Liver Disease, 1998
Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population studies suggest that the prevalence of asymptomatic heterozygotes for a mutant AIP gene may be in the range of 1 in 2,000. Clinical manifestations include abdominal pain and neurological dysfunctions.
D A, MALOOLY, N C, HIGHTOWER, J D, IBARRA, R D, HAINES   +3 more
openaire   +4 more sources