Results 51 to 60 of about 3,148 (150)
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
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 4, April 2025.ABSTRACT Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19‐month‐old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver ...
Mahsa Rouhafshari +4 more
wiley +1 more source
Perioperative Management Challenges in Silent Pheochromocytoma: A Case Report and Literature Review
Clinical Case Reports, Volume 13, Issue 4, April 2025.ABSTRACT Silent pheochromocytomas, frequently misdiagnosed as nonfunctioning adrenal adenomas, carry a high risk of perioperative hemodynamic instability. This case underscores the importance of thorough preoperative biochemical screening, proactive anesthetic strategies, and continuous intraoperative monitoring.
Kai Lin +3 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
doaj
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
doaj
Porphyria in pregnancy with exacerbation after delivery due to COVID-19
Journal of Education, Health and SportWe present a case of acute intermittent porphyria (AIP) diagnosed in a pregnant woman with subsequent exacerbation after delivery due to COVID-19 infection.
Aleksandra Jartych +5 more
doaj +1 more source