Results 1 to 10 of about 3,950 (159)

Acute hepatic porphyria in Denmark; a retrospective study [PDF]

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria ...
Magnus Emil Ulrich Wagner, Morten Frost, Jan Frystyk   +2 more
doaj   +5 more sources

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   +2 more sources

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management [PDF]

Clinical and Experimental Gastroenterology
Manish Thapar,1 Akash Singh,2 Kevin M Robinson,3 Herbert L Bonkovsky4 1Division of Hepatology, Jefferson- Einstein Medical Center, Philadelphia, PA, USA; 2Department of Medicine, Jefferson- Einstein Medical Center Montgomery, East Norriton, PA, USA ...
Thapar M, Singh A, Robinson KM, Bonkovsky HL   +3 more
doaj   +4 more sources

Pathogenesis of acute encephalopathy in acute hepatic porphyria. [PDF]

J Neurol, 2023
AbstractAcute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely.
Pischik E, Baumann K, Karpenko A, Kauppinen R.   +3 more
europepmc   +4 more sources

Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations [PDF]

Frontiers in Neuroscience, 2021
Acute hepatic porphyria represents a rare, underdiagnosed group of inherited metabolic disorders due to hereditary defects of heme group biosynthesis pathway.
Paulo Victor Sgobbi de Souza, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +4 more
doaj   +2 more sources

Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study [PDF]

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance   +16 more
doaj   +2 more sources

Clinical features of Japanese patients with acute hepatic porphyria [PDF]

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a family of rare genetic diseases of heme biosynthesis characterized by severe neurovisceral attacks. The clinical characteristics of patients with AHP as well as the prevalence of AHP in Japan are not well understood ...
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi   +2 more
doaj   +2 more sources

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and delta-aminolevulinic acid dehydratase-deficient porphyria.
Yutaka Horie, Yuka Yasuoka, Tomohide Adachi   +2 more
doaj   +2 more sources

Acute Hepatic Porphyria. [PDF]

J Clin Transl Hepatol, 2015
The porphyrias comprise a set of diseases, each representing an individual defect in one of the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically distinct but have in common the overproduction of heme precursors. In the case of the acute (neurologic) porphyrias, the cause of symptoms appears to be overproduction of a ...
Bissell DM, Wang B.
europepmc   +6 more sources

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study [PDF]

Orphanet Journal of Rare Diseases, 2021
Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates.
Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger, John J. Ko   +9 more
doaj   +2 more sources