Results 81 to 90 of about 4,129 (167)

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Acute intermittent porphyria and pregnancy: an obstetric challenge

, 2016
Acute intermittent porphyria is a rare autosomal dominant disease caused by a mutation in the gene coding for the porphobillinogen deaminase enzymes in heam biosynthesis.
Jain, Sandhya, Gupta, Bindiya, Goel, Neerja, Rajaram, Shalini, Meena, Pragati   +4 more
core   +1 more source

Acute Intermittent Porphyria in a Child with Severe Neuropathy [PDF]

, 2017
Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and ...
Francesca Granata, Valentina Brancaleoni, Azzurra Guerra, Elena Di Pierro, Stefano Marchini, Cristiano Rosafio, Lorenzo Iughetti, Paolo Ventura   +7 more
core   +1 more source

Porphyria in pregnancy with exacerbation after delivery due to COVID-19

Journal of Education, Health and Sport
We present a case of acute intermittent porphyria (AIP) diagnosed in a pregnant woman with subsequent exacerbation after delivery due to COVID-19 infection.
Aleksandra Jartych, Karolina Michalska, Izabela Oleksak, Janusz Sauermann, Anna Jamroz-Wiśniewska, Konrad Rejdak   +5 more
doaj   +1 more source

Acute Intermittent Porphyria and Pregnancy

, 1997
The Porphyria are a group of inherited and acquired disorders characterized by partial defects in the heme biosynthetic pathway. Among the hepatic forms, acute intermittent porphyria(AIP) is the most severe and common type in western hemisphere.
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core  

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.
Calleja, Paul, Abela, Glenn Paul
core  

Acute intermittent porphyria-related leukoencephalopathy

, 2016
Objective: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family. Methods: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We
Waisfisz, Q, Langendonk, Janneke, Neeleman, Rochus, Friesema, Edith; id_orcid, Langendonk, Janneke G., Van Der Knaap, Marjo S., Langendonk, Janneke; id_orcid, Kevelam, Sietske H., Kevelam, SH, van der Knaap, MS, Waisfisz, Quinten, Friesema, Edith, Neeleman, Rochus A., Friesema, Edith C H   +13 more
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A family with acute intermittent porphyria

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core  

Secret Underlying Unexplained Abdominal Pain, Neurological Symptoms and Intermittent Hypertension: Acute Intermittent Porphyria

, 2017
A 21-year-old female patient with abdominal pain, vomiting and constipation was admitted to the hospital with the possible diagnosis of diabetic ketoacidosis.
Elif Gram, Andac Komac, Harun Akar, Feray Gulec   +3 more
core   +1 more source