Results 71 to 80 of about 17,878 (259)
A family with acute intermittent porphyria [PDF]
, 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
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The Journal of Clinical Hypertension, Volume 28, Issue 5, May 2026.ABSTRACT Posterior reversible encephalopathy syndrome (PRES) is a rare but severe neurological complication associated with hypertensive disorders of pregnancy and HELLP syndrome. We report a postpartum case in which neurological manifestations preceded the full biochemical expression of HELLP syndrome. A 22‐year‐old primigravida was admitted at 36 + 0
Dario Colacurci +19 more
wiley +1 more source
Frontiers in Molecular BiosciencesIntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder +14 more
doaj +1 more source
Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C [PDF]
Anais Brasileiros de Dermatologia, 2019 : A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported.
Juliana de Oliveira Alves Calado +2 more
doaj +1 more source
Biomedicines, 2022 Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias ...
Maria Savino +11 more
doaj +1 more source
Atypical Guillain‐Barré Syndrome Preceding Icteric Hepatitis A: A Diagnostic Challenge—A Case Report
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Guillain–Barré syndrome (GBS) is an acute immune‐mediated neuropathy typically triggered by infections. Rarely, it may precede acute hepatitis A (HAV), creating diagnostic challenges. We report a 32‐year‐old male presenting with ascending weakness and tingling in limbs without initial hepatic symptoms.
Asem Afana +4 more
wiley +1 more source
The photodynamic and non-photodynamic actions of porphyrins
Brazilian Journal of Medical and Biological Research, 1999 Porphyrias are a family of inherited diseases, each associated with a partial defect in one of the enzymes of the heme biosynthetic pathway. In six of the eight porphyrias described, the main clinical manifestation is skin photosensitivity brought about ...
S.G. Afonso +2 more
doaj +1 more source
Transcription Factors GATA1/2 in Hematological Disorders
eJHaem, Volume 7, Issue 2, April 2026.ABSTRACT Background GATA1 and GATA2 are zinc‐finger transcription factors essential for normal hematopoiesis. As genetic testing becomes more widely integrated into clinical practice, GATA1/2‐related disorders are increasingly recognized, making it important for clinicians to understand their diagnosis and management.
Matthew Karr +2 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
core
Menthol reduces phototoxicity pain in a mouse model of photodynamic therapy [PDF]
, 2018 Phototoxicity-induced pain is a major clinical problem triggered by light acting on photosensitising drugs or endogenous porphyrins, notably protoporphyrin IX (PpIX), an intermediary in heme biosynthesis.
Baptista-Hon, Daniel +6 more
core +3 more sources