Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
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Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]
, 2014 We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes +3 more
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Polarization-dependent laser autofluorescence of the polycrystalline networks of blood plasma films in the task of liver pathology differentiation [PDF]
, 2016 Current research presents the results of the investigation of diagnostic efficiency of laser polarization autofluorescence for the set of endogenous fluorophores of blood plasma polycrystalline films in two spectral regions (0.5–0.53 μm and 0.63–0.67 μm)
Дуболазов, А.В. +4 more
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Genetic and biochemical studies in Argentinean patients with variegate porphyria
BMC Medical Genetics, 2008 Background A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina.
Giudice Jimena +4 more
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Rare mutation of the PPOX gene in a patient with Porphyria Variegate: a case report in Peru [PDF]
, 2023 Introduction: Variegate porphyria (VP) is a rare disease, resulting from mutation of the protoporphyrinogen oxidase (PPOX) enzyme gene, and it is characterized by cutaneous manifestations and acute neuro-visceral symptoms.
Caira-Chuquineyra, Brenda +2 more
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A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]
, 2019 Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK +4 more
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Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung +4 more
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Differential gene expression in the murine gastric fundus lacking interstitial cells of Cajal. [PDF]
, 2011 BACKGROUND: The muscle layers of murine gastric fundus have no interstitial cells of Cajal at the level of the myenteric plexus and only possess intramuscular interstitial cells and this tissue does not generate electric slow waves.
Caldas, Carlos +6 more
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European Journal of Neurology, Volume 32, Issue 6, June 2025.ABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Reem M. Alhammad +9 more
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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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