Results 61 to 70 of about 3,228 (129)

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HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +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

An update of clinical management of acute intermittent porphyria

The Application of Clinical Genetics, 2015
Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St ...
Pischik E, Kauppinen R
doaj  

Low availability of haematin (hemin) in Pakistan

Journal of the Pakistan Medical Association
Madam, Acute Intermittent Porphyria (AIP) is an autosomal dominant disorder that results from a defect in the enzyme named porphobilinogen deaminase.1 It is symptomatic porphyria, involving the accumulation of porphyrins and porphyrin precursors due to ...
Fatima Ahsan, Muhammed Ifham Mohamed Imtiyas, Abdul Raheem Rizvie   +2 more
doaj   +1 more source

Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

Brain Disorders
We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse, Dominique Dive, François Charles Wang   +2 more
doaj   +1 more source

Acute intermittent porphyria: Diagnosis per chance

Indian Journal of Pathology and Microbiology, 2008
Objectives: To report a case of acute intermittent porphyria (AIP) diagnosed by chance during routine investigations. Clinical Presentation and Intervention: A 21-year-old female presented with vague gastrointestinal symptoms.
Soundravally R, Goswami K, Nandeesha H, Koner B, Sethuraman K   +4 more
doaj  

«PURPLE MYSTERY» OR SIXTEEN-YEAR-OLD GIRL`S ACUTE INTERMITTENT PORPHYRIA

Мать и дитя в Кузбассе, 2019
The Patient G., 16 years old with polymorphic nonspecific complaints, since 2011. Objective – to analyse rare clinical case of the manifestation of acute intermittent porphyria (AIP) of sixteen-year-old girl, to trace the sequence of increase of ...
Елена Алексеевна Беседина, Наталья Вячеславовна Кравцова, Павел Евгеньевич Анчутин, Дарья Юрьевна Беседина, Валерия Дмитриевна Нечаева, Аделина Юсуфовна Юсуфова, Баттал Нурадинович Алиев   +6 more
doaj  

A Diagnostic Challenge in the Emergency Department: Acute Intermittent Porphyria Unmasked After Cabergoline Exposure. [PDF]

Cureus
Mina C, Ghanem H, Matar N.
europepmc   +1 more source

Acute Intermittent Porphyria Mimicking Severe Coprostasis in a Patient on Opioid Maintenance Therapy. [PDF]

Eur J Case Rep Intern Med
Glatzle C, Gerstendörfer F, Arpagaus A, Gössi F.   +3 more
europepmc   +1 more source

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source