Results 81 to 90 of about 1,705 (212)
LABRAD : Vol 34, Issue 3 - October 2009 [PDF]
, 2009 Detection of Amoebic Meningitis by Wet Film of Cerebrospinal Fluid (CSF) Biochemical Tests in the Diagnosis of Anaemia Pathophysiology and Laboratory Investigation in Anaemia of Chronic Disease Haematogones: A pitfall in the Diagnosis of Leukemias ...
Aga Khan University Hospital, Karachi
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Pregnancy in porphyria and its complications: a case report [PDF]
, 2020 As with many rare diseases, little is known about the porphyrias and reproduction. Knowledge pertaining to complications in pregnancy in a patient with porphyria is even more scant. The information which we have is from attending on individual cases. The
Fuke, Rujuta P., Mital, Tuhina K.
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Exploring current and emerging therapies for porphyrias
Liver International, Volume 44, Issue 9, Page 2174-2190, September 2024.Abstract Porphyrias are rare, mostly inherited disorders resulting from altered activity of specific enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates. Photocutaneous symptoms occur when excess amounts of photoreactive porphyrins circulate in the blood to the skin, whereas increases in potentially neurotoxic ...
Daniel Jericó +7 more
wiley +1 more source
Cutaneous Porphyrias:Causes, symptoms, treatments and the Danish incidence 1989-2013 [PDF]
, 2016 Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias.
Aagaard, Lise +4 more
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JIMD Reports, Volume 65, Issue 4, Page 262-271, July 2024.Abstract Givosiran is a subcutaneously administered, liver‐targeted RNA interference (RNAi) therapeutic that has been approved for treating acute hepatic porphyria (AHP). Elevation in plasma homocysteine (hyperhomocysteinemia) has been reported in AHP patients, and treatment with givosiran has been reported to further increase homocysteine levels in ...
Mark A. Keibler +3 more
wiley +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
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The Acute Porphyric Attack: A Difficult Diagnosis for a Potential Lethal Event in Emergency Medicine [PDF]
, 2015 The porphyrias are a heterogeneous group of metabolic disorders due to an inherited (but in some forms the disturbance may also be acquired) enzymatic deficiency in the metabolic pathway of heme biosynthesis.
Cuoghi, Chiara +2 more
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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
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Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature [PDF]
, 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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