Results 121 to 130 of about 17,878 (259)

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

open access: yes, 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
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Porphyria [PDF]

open access: yesPostgraduate Medical Journal, 1956
openaire   +2 more sources

Symptomatic porphyria

open access: yesSouth 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

Fotossensibilidade amplificada? Relato de porfiria cutânea tarda associada a lúpus eritematoso sistêmico

open access: yesRevista Brasileira de Reumatologia
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]

open access: yes, 2010
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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Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]

open access: yes, 2010
Mette Christophersen Tollånes   +2 more
core   +1 more source

Differential Diagnosis of Progressive Generalized or Symmetrical Flaccid Paralysis [PDF]

open access: yes, 1977
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.
core   +1 more source

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