Results 31 to 40 of about 789 (146)

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. [PDF]

PLoS ONE, 2016
The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant ...
Miguel D Ferrer, Antonia Mestre-Alfaro, Magdalena Martínez-Tomé, Lucrecia Carrera-Quintanar, Xavier Capó, Antonia M Jiménez-Monreal, Luis García-Diz, Enrique Roche, María A Murcia, Josep A Tur, Antoni Pons   +10 more
doaj   +1 more source

An overview of the cutaneous porphyrias [version 1; referees: 2 approved]

F1000Research, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj   +1 more source

Molecular Characterization of Homozygous Variegate Porphyria [PDF]

Human Molecular Genetics, 1998
Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal ...
A G, Roberts, H, Puy, T A, Dailey, R R, Morgan, S D, Whatley, H A, Dailey, P, Martasek, Y, Nordmann, J C, Deybach, G H, Elder   +9 more
openaire   +3 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

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   +1 more source

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

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   +1 more source

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Medical Journal, 2018
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj   +1 more source

Genetic and biochemical studies in Argentinean patients with variegate porphyria

BMC Medical Genetics, 2008
Background A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina.
Giudice Jimena, Granata Bárbara X, Rossetti María V, Parera Victoria E, Batlle Alcira   +4 more
doaj   +1 more source

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives

Orphanet Journal of Rare Diseases, 2022
Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +5 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source