Results 31 to 40 of about 22,097 (228)

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria [PDF]

, 1992
A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion
Bourgeois, F. (Francine), Grandchamp, B. (Bernard), Nordmann, Y. (Yves), Rooij, F.W.M. (Felix) de, Siersema, P.D. (Peter), Verneuil1, H. (Hubert) de, Wilson, J.H.P. (Paul)   +6 more
core   +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

Serum organochlorines and urinary porphyrin pattern in a population highly exposed to hexachlorobenzene [PDF]

, 2002
Background: Porphyria cutanea tarda (PCT) is caused by hexachlorobenzene (HCB) in several species of laboratory mammals, but the human evidence is contradictory.
Jordi Sunyer, Carmen Herrero, Dolores Ozalla, Maria Sala, Núria Ribas-Fitó, Joan Grimalt, Xavier Basagaña, RK Ockner, H Peters, I Dogramaci, I Dogramaci, ES Mazzei, A Morley, JE Burns, MF Currier, JO Grimalt, M Sala, C Herrero, JL Santos, WE Daniell, M Sala, J To-Figueras, E Rossi, GH Elder, D Ozalla, E Rocchi, JE Burns, A Sélden, RE Jones, GM Calvert, D Jung, G García-Vargas, JS Woods, GYH Lyp, PR Sinclair, APJM van Birgelen   +35 more
core   +1 more source

The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators

Journal of Hospital Medicine, EarlyView.
Abstract Diagnostic reasoning (DR) is a core clinical skill, yet its teaching remains variable. We introduce the “5L” framework as a bedside teaching scaffold that gives educators and learners a shared, stepwise set of prompts for DR during individual encounters. By asking, “What's Lethal? What's Likely? What's Logical? What's Lurking?
Olivia Brumfield, Amal Mohamed, Shuhan He, Cory Rohlfsen   +3 more
wiley   +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

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK, Chen, L, Lederhandler, M, Meehan, SA, Neimann, A   +4 more
core  

The effect of desferrioxamine on iron metabolism and lipid peroxidation in hepatocytes of C57BL/10 mice in experimental uroporphyria [PDF]

, 1993
The effects of the iron chelator desferrioxamine (DFx) on liver iron accumulation, malondialdehyde (MDA) production, porphyrin accumulation and uroporphyrinogen decarboxylase (URO-D; EC 4.1.1.37) activity were investigated over a period of 14 weeks in ...
Eijk, H.G. (Henk) van, Jeu-Jaspars, C.M.H. (Nel) de, Koster, J.F. (Johan), Rooy, F.W.M. (F. W M) de, Siersema, P.D. (Peter), Van Gelder, C.M. (Carin), Voogd, A. (Arthur), Wilson, J.H.P. (Paul)   +7 more
core   +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

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, EarlyView.
ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +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