Results 101 to 110 of about 11,286 (212)

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

Novel treatment options for acute hepatic porphyrias

, 2021
Bruce Wang
openalex   +2 more sources

Microelements and Inherited Metabolic Diseases

Acta Medica, 2002
In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and ...
Eliška Marklová
doaj   +1 more source

General anaesthesia in acute intermittent porphyria [PDF]

, 2014
Acute intermittent porphyria (AIP) is caused by the deficiency of porphobilinogen deaminase, a haem synthesis enzyme, giving rise to crises characterized by abdominal pain, tachyarrythmias and psychiatric features.
Abela, Glenn Paul, Calleja, Paul
core  

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria [PDF]

, 2002
A Gregor, Xiaoye Schneider‐Yin, Urszula Szlendak, A. Wettstein, Agnieszka Lipniacka, Urszula B. Rüfenacht, Elisabeth I. Minder   +6 more
openalex   +1 more source

Porphyrias [PDF]

British Journal of Anaesthesia, 2000
M F, James, R J, Hift
openaire   +2 more sources

Acute porphyrias and porphyric neuropathy

Southwest Respiratory and Critical Care Chronicles, 2016
The porphyrias are a group of uncommon inherited metabolic disorders of heme biosynthesis. Acute porphyrias are specific types of porphyrias characterized by the presence of acute attacks that usually present with abdominal pain, psychiatric symptoms ...
Doungporn Ruthirago, Parunyou Julayanont, Supannee Rassameehiran   +2 more
doaj  

Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report

Brain Disorders
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes, Caroline Colnago Demoner, Amanda Ambrosini Cipriano, Giselle Alves de Oliveira, Raphael de Paula Doyle Maia, Paula Zago Melo Dias, Mariana Lacerda Reis Grenfell, Renann Nunes Pirola, Marcelo Ramos Muniz   +8 more
doaj   +1 more source

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family [PDF]

, 2018
Summary: Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the
Mamet, R., Minder, E., Schneider-Yin, X., Schoenfeld, N.   +3 more
core  

Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]

, 2018
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity.
Haldemann, Andreas, Minder, Elisabeth, Schneider-Yin, Xiaoye   +2 more
core