Results 51 to 60 of about 3,228 (129)
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
Desensitization in patients with hypersensitivity to haem arginate: A case report
World Allergy Organization Journal, 2019 Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman +3 more
doaj +1 more source
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
Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
Revista Brasileira de Terapia Intensiva, 2008 Porfiria aguda intermitente é patologia incomum, com conseqüências potencialmente graves se não reconhecida precocemente. Dentre as possíveis causas de indução de crises de porfiria, a redução da ingestão calórica é descrita na literatura.
Daniela von Ah Lopes +5 more
doaj +1 more source
International Journal of Hepatology, 2011 Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men.
A. González Estrada +3 more
doaj +1 more source
Porphyria Presenting as Diffuse Encephalopathy
Pediatric Neurology Briefs, 2005 An 18-year-old female presenting with seizures, myalgias, abdominal pain, headache and vomiting had multiple large contrast-enhancing white matter lesions on MRI and was diagnosed with acute intermittent porphyria (AIP), in a report from the Department ...
J Gordon Millichap
doaj +1 more source
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
Neuropsychiatric Disease and Treatment, 2014 Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M +3 more
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Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
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