Results 121 to 130 of about 17,878 (259)
Carrier detection and phenotypic expression in a family with hereditary coproporphyria [PDF]
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
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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 associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade.
Scheila Fritsch +5 more
doaj
Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature [PDF]
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain.
Brynhildur Tinna Birgisdóttir +4 more
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Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]
Mueller, Wilhelm +2 more
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Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]
Mette Christophersen Tollånes +2 more
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Differential Diagnosis of Progressive Generalized or Symmetrical Flaccid Paralysis [PDF]
Progressive flaccid paralysis occurring over a period of hours or days is usually associated with the Landry-Guillain-Barré-Strohl syndrome. This symptom complex is often accompanied by a history of previous flu-like illness, antecedent myalgias, and ...
Isaacs, Edward R.
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