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A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria. [PDF]

open access: yesLiver Int
Merati M   +11 more
europepmc   +1 more source

Porphyria

New England Journal of Medicine, 2017
D Montgomery Bissell   +2 more
exaly   +6 more sources

Porphyrias

The Lancet, 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.
HervĂ©, Puy   +2 more
openaire   +2 more sources

Porphyrias

Journal of Clinical Gastroenterology, 1998
The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system ...
Y V, Scarlett, D A, Brenner
openaire   +2 more sources

Porphyrias

The Lancet, 2005
Seven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms.
openaire   +2 more sources

The Porphyrias

Emergency Medicine Clinics of North America, 2005
The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
openaire   +2 more sources

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