Results 41 to 50 of about 11,286 (212)
Endothelial Dysfunction in Acute Hepatic Porphyrias
Diagnostics, 2022 Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term ...
Andrea Ricci +8 more
doaj +1 more source
Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes [PDF]
, 2011 Extracellular matrix alterations are important elements in the arterial changes seen in diabetes, being associated with increased vascular stiffness and the development of cardiovascular diseases.
Aagard, Jan +16 more
core +1 more source
Safe use of perampanel in a carrier of variegate porphyria [PDF]
, 2016 Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S +3 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
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
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
Update on Menopause Hormone Therapy; Current Indications and Unanswered Questions
Clinical Endocrinology, EarlyView.ABSTRACT Objective To provide clinicians involved in managing menopause with a summary of current evidence surrounding menopause hormone therapy (MHT). Design The authors evaluate and synthesize existing pooled evidence relating to MHT's clinical indications, efficacy, and safety and explore the limitations of existing data. Patients The review focuses
Annice Mukherjee, Susan R. Davis
wiley +1 more source
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Jeremy Clark +6 more
wiley +1 more source
Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias
eLife, 2016 Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus +8 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam +7 more
wiley +1 more source