Adenine phosphoribosyltransferase deficiency: Leave no stone unturned
نویسندگان
چکیده
منابع مشابه
Gallstone Ileus of the Colon: Leave No Stone Unturned
A case of gallstone ileus of the colon with illustrative pictures is presented, making the physicians more aware of this rare entity. Furthermore, the use of imaging modalities for diagnosis and decision making in management strategy is discussed.
متن کاملTo leave no stone unturned: cholelithiasis and subsequent gallstone ileus.
To cite: Yong E, Chiu TF, Kamel H, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016215348 DESCRIPTION A 68-year-old man was admitted after a sudden collapse and a 5-day history of severe vomiting. On admission, he was hypotensive with a blood pressure of 70/60 mm Hg and had to be fluid resuscitated with 3 L of intravenous fluids via a femoral venous cat...
متن کاملLeave no stone unturned in case of groans.
To cite: Hoekstra RJ, Smakman N, Sanders FBM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013201991 DESCRIPTION An 84-year-old woman presented to our emergency room with abdominal symptoms since a couple of weeks. She reported vomiting and absence of defaecation for 3 days. Her medical history revealed myocardial infarction and an appendectomy. Physica...
متن کاملDihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA a...
متن کاملAdenine phosphoribosyltransferase deficiency
Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular defect Clinical description Management including treatment Etiology Diagnostic methods Antenatal diagnosis Unresolved questions References Abstract Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP (adenosine monophosphate) from adenine and 5'-pho...
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ژورنال
عنوان ژورنال: World Journal of Clinical Urology
سال: 2014
ISSN: 2219-2816
DOI: 10.5410/wjcu.v3.i3.218