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A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia. [PDF]
J Clin MedNeculcea AC +11 more
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Adverse events of givosiran in the treatment of acute hepatic porphyria: a pharmacovigilance study using the FAERS and VigiAccess databases. [PDF]
Orphanet J Rare DisXu Y, Li F, Huang L, Zhang M, Du P.
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Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria. [PDF]
CureusRoldão M +4 more
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Constipation with megacolon or acute porphyria. [PDF]
Gastroenterol Rep (Oxf)Chen J, Zhou S, Chen Q, Tian H.
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Case Report: Recurrent gestation-limited intractable abdominal colic with elevated phthalate and paraben biomarkers: a hypothesis-generating observation. [PDF]
Front Med (Lausanne)Sun S, Zou Y, Liu X, Li SG.
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Lancet, The, 2010
Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors.
Laurent Gouya +2 more
exaly +3 more sources
Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors.
Laurent Gouya +2 more
exaly +3 more sources