Results 1 to 10 of about 6,798 (210)

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   +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

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

Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation [PDF]

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias (AHPs) are a family of rare, autosomal, dominantly inherited conditions characterized by abnormalities in the production of heme.
Claudio Carmine Guida, Maria Nardella, Aurora del Mar YS Perez, Maria Savino, Gaetano Ferrara, Francesco Napolitano, Annalisa Crisetti, Francesco Aucella, Filippo Aucella   +8 more
doaj   +2 more sources

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension [PDF]

Medical Sciences
Secondary hypertension and resistant hypertension may result from potentially treatable acquired or hereditary diseases. Inherited Metabolic Disorders are not routinely included in the differential diagnosis of these contexts associated with hypertension,
Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, João Paulo Barile, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Daniel Delgado Seneor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +2 more sources

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes   +3 more
doaj   +2 more sources

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria [PDF]

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +2 more sources