Results 41 to 50 of about 31,642 (216)

Letter to the Editor – Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]

Journal of Comparative Effectiveness Research
Rocco Falchetto, Jasmin Barman-Aksözen
doaj   +2 more sources

Nonconvulsive status epilepticus secondary to acute porphyria crisis

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 more
doaj   +1 more source

Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls

Clinical Practice and Cases in Emergency Medicine, 2022
Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular ...
Anthony Rios, Lisa Kehrberg, Hillary E. Davis   +2 more
doaj   +1 more source

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Hepatology, 2018
Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long‐term complications.
L. Gouya, P. Ventura, M. Balwani, D. Bissell, D. Rees, U. Stölzel, J. Phillips, R. Kauppinen, J. Langendonk, R. Desnick, J. Deybach, H. Bonkovsky, Charles Parker, H. Naik, M. Badminton, P. Stein, E. Minder, J. Windyga, R. Brůha, M. Cappellini, Eliane Sardh, P. Harper, S. Sandberg, A. Aarsand, J. Andersen, F. Alegre, A. Ivanova, N. Talbi, A. Chan, W. Querbes, John J Ko, C. Penz, Shangbin Liu, Tim-Han Lin, A. Simon, K. Anderson   +35 more
semanticscholar   +1 more source

Feasibility of cellular bioenergetics as a biomarker in porphyria patients

Molecular Genetics and Metabolism Reports, 2019
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K. Singal   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

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

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   +1 more source

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Orphanet Journal of Rare Diseases, 2020
Background Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent ...
Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson, Janneke G. Langendonk   +3 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

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source