Results 101 to 110 of about 22,097 (228)

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  

Porphyria [PDF]

Postgraduate Medical Journal, 1956
openaire   +2 more sources

Carrier detection and phenotypic expression in a family with hereditary coproporphyria [PDF]

, 2007
University of Technology, Sydney. Faculty of Science.Introduction: Hereditary coproporphyria (HCP) is an autosomal dominant disorder that results from defects in the enzyme coproporphyrinogen oxidase (CPOX).
Al Hafid, N
core  

Symptomatic porphyria

South African Medical Journal, 2018
A study has been made of 7 alcoholic and 2 non-alcoholic patients with symptomatic porphyria. Siderosis (mild or absent in most cases), focal fatty change and lipofuscin pigmentation were noted on light microscopy while ultrastructural study revealed that focal cellular lysis was unexpectedly common.
Timme, AH, Dowdle, EB, Eales, L
openaire   +2 more sources

A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue

Acta Medica Iranica, 1959
A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj  

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

Orphanet Journal of Rare Diseases
Background Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far.
Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole Wolf, Ingeborg Krägeloh-Mann   +4 more
doaj   +1 more source

Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Mueller, Wilhelm, Stauch, Thomas, Vogeser, Michael   +2 more
core   +1 more source

Porphyria [PDF]

BMJ, 1953
openaire   +2 more sources

Sporadic porphyria cutanea tarda due to haemochromatosis [PDF]

, 2006
Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues.
Dees, A., Geus, H.R.H. (Hilde) de
core  

Studies on Olividae. II. Further protoconch morphometrical data for Oliva taxonomy [PDF]

, 1986
Three novel protoconch measurements are defined.
Germain, L., Tursch, B.
core