Results 11 to 20 of about 16,235 (263)
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria [PDF]
New England Journal of Medicine, 2019 Eliane Sardh +20 more
openalex +3 more sources
Acute porphyrias – A neurological perspective
Brain and Behavior, 2021 Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer +5 more
doaj +1 more source
Journal of Medical Case Reports, 2022 Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group.
Sujata Baidya +10 more
doaj +1 more source
Acute Hepatic Porphyria – Minireview [PDF]
Modern Medicine, 2023 Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Andrei EDU, Lucian NEGREANU
doaj +1 more source
Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant +40 more
core +1 more source
Acute intermittent porphyria exacerbation following in vitro fertilization treatment
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objectives: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.
Geok Huey New +2 more
doaj +1 more source
Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]
, 2001 Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Dühmke, Eckhart +4 more
core +1 more source
The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj +1 more source
Urinary porphyrin excretion in hepatitis C infection [PDF]
, 1999 A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl +2 more
core +1 more source