Results 71 to 80 of about 31,642 (216)
Human Mutation, 2016 Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when heterozygotes have life‐threatening acute attacks, while most heterozygotes ...
Brenden Chen +10 more
semanticscholar +1 more source
Developing the FIGO‐IPPS “R U MOVVING SOMe” classification system for female chronic pelvic pain
International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 550-565, November 2025.Abstract The goal was to develop a pragmatic classification system for conditions associated with chronic pelvic pain (CPP), aiming to enhance diagnosis, management, education, and research of CPP. An international, multidisciplinary panel participated in a modified RAND/UCLA Delphi consensus.
Georgine Lamvu +8 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source
Acute intermittent porphyria case in clinical practice internist
Journal of Education, Health and Sport, 2019 Porphyria is group of eight metabolic disorders characterized by defects in hemebiosynthesis. The presentation of porphyria is highly variable, and the symptoms are non specific, which accounts in part for delay sinestablishing a diagnosis.
V. V. Chopyak, Y. F. Tolstyak
doaj +3 more sources
United European Gastroenterology Journal, Volume 13, Issue 9, Page 1740-1753, November 2025.ABSTRACT Background and Objectives Primary sclerosing cholangitis (PSC) is a chronic liver disease with aberrant immune dysregulation and bile duct fibrosis. It is often associated with inflammatory bowel disease (IBD), especially ulcerative colitis, raising questions about distinct immune activation in these conditions.
Md Moniruzzaman +6 more
wiley +1 more source
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain
Case Reports in Emergency Medicine, 2017 Lead poisoning (LP) is less commonly encountered in emergency departments (ED). However, lead exposure still occurs, and new sources of poisoning have emerged. LP often goes unrecognized due to a low index of suspicion and nonspecific symptoms.
Ming-Ta Tsai +2 more
semanticscholar +1 more source
An Unusual Gastrointestinal Presentation of Sjogren's Syndrome: A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Sjögren's syndrome (SS) is a chronic autoimmune disorder characterized by lymphocytic infiltration and destruction of exocrine glands, commonly involving the salivary and lacrimal glands, leading to dry mouth and eyes. While SS primarily affects the upper gastrointestinal tract, this case presents a rare small intestine involvement.
Oudai Sahwan +5 more
wiley +1 more source
Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur +3 more
doaj +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Hydroxychloroquine (HCQ) is a common treatment for recurrent implantation failure (RIF), which may be associated with diverse side effects. We report a case of a 36‐year‐old RIF3 pregnant female through in vitro fertilization (IVF) presented to the emergency department with painful, itchy, macular, erythematous, blanchable, and exfoliative ...
Hatav Ghasemi Tehrani +4 more
wiley +1 more source