Results 41 to 50 of about 1,644 (213)
Urinary porphyrin excretion in hepatitis C infection [PDF]
, 1999 A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl +2 more
core +1 more source
The acute hepatic porphyrias: Current status and future challenges
, 2010 The porphyrias are predominantly inherited metabolic disorders which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis Historically they have been classified Into hepatic and erythropoietic forms based ...
Marko Siegesmund +7 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
Acute Hepatic Porphyria – Minireview
Medicina Moderna - Modern Medicine, 2023 Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a crucial component of haemoglobin in the bloodstream.
Aida SAVU, Andrei EDU, Lucian NEGREANU
openaire +2 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
, 2010 The porphyrias are metabolic disorders characterized by overproduction of haem precursors, principally in the liver and bone marrow. Most porphyrias are inborn errors that affect enzymatic steps in a tightly regulated biosynthetic pathway for haem ...
T.M. Cox
core +1 more source
Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria
Frontiers in Genetics, 2022 Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal ...
Erica Graff +3 more
doaj +1 more source
Iron Overload: Pathophysiology, Diagnosis and Monitoring
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil +3 more
wiley +1 more source
Pharmacology Research & Perspectives, 2022 Compounds that induce 5‐aminolevulinic acid [ALA] synthase‐1 and/or cytochromes P‐450 may induce acute porphyric attacks in patients with the acute hepatic porphyrias [AHPs].
Christopher D. Ma +4 more
doaj +1 more source
Treatment of the Porphyrias: Mechanisms of Action
, 1981 The porphyrias are diseases that result from inherited or acquired abnormalities of porphyrin-heme synthesis in the liver and the bone marrow. Only the hepatic porphyrias are known to be aggravated by exposure to a variety of exogenous drugs and ...
Bickers, David R
core +1 more source