Results 71 to 80 of about 3,292 (173)

Interfering with acute intermittent porphyria [PDF]

Nature Reviews Gastroenterology & Hepatology, 2020
openaire   +2 more sources

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

International Journal of Clinical Practice, 1961
A K, BOYLE, A, MACIEJEWSKI
openaire   +2 more sources

Acute intermittent porphyria. Inflammation, diet and biomarkers in acute intermittent porphyria

, 2021
Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited metabolic disease with lowered function of the enzyme hydroxymethylbilan synthase due to mutation in this gene of the heme synthesis. The resulting excess of aminolevulinic acid and porphobilinogen can result in acute abdominal pain, paresis, fatigue, increased risk for kidney ...
openaire   +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 Case Report of Acute Intermittent Porphyria Mimicking Autoimmune Encephalitis. [PDF]

Cureus
Kumar H, Salam M.
europepmc   +1 more source

Claw hands in acute intermittent porphyria. [PDF]

Oxf Med Case Reports
Wang JD, Chou CT.
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

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