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UAB Digital Repository of Documents 4 records found  Search took 0.01 seconds. 
1.
6 p, 1.3 MB Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients / Mogas Viñals, Eduard (Universitat Autònoma de Barcelona) ; Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona) ; Clemente León, María (Universitat Autònoma de Barcelona) ; Castaño, Luis (Endocrinology and Diabetes Research Group) ; Moreno Galdó, Antonio (Universitat Autònoma de Barcelona) ; Yeste Fernández, Diego (Universitat Autònoma de Barcelona) ; Carrascosa Lezcano, Antonio 1949- (Universitat Autònoma de Barcelona)
2018 - 10.1530/EDM-18-0009
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2018 (June 2018) , art. 18-0009  
Detailed record - Creative Commons
2.
5 p, 2.4 MB Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene / Clemente, Maria (Hospital Universitari Vall d'Hebron) ; Vargas, Alejandro (Hospital Universitari Vall d'Hebron) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Martínez, Rosa (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Campos-Martorell, Ariadna (Hospital Universitari Vall d'Hebron) ; Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.
2017 - 10.1530/EDM-16-0133
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2017 (march 2017)  
Detailed record - Creative Commons
3.
6 p, 158.0 KB Clinical challenges in the management of isolated GH deficiency type IA in adulthood / Casteràs, Anna (Hospital Universitari Vall d'Hebron) ; Kratzsch, Jürgen (University of Leipzig) ; Ferrández, Ángel (Hospital Universitario Miguel Servet (Saragossa)) ; Zafón, Carles (Hospital Universitari Vall d'Hebron) ; Carrascosa Lezcano, Antonio 1949- (Hospital Universitari Vall d'Hebron) ; Mesa Manteca, Jordi (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Isolated GH deficiency type IA (IGHDIA) is an infrequent cause of severe congenital GHD, often managed by pediatric endocrinologists, and hence few cases in adulthood have been reported. Herein, we describe the clinical status of a 56-year-old male with IGHDIA due to a 6. [...]
2014 - 10.1530/EDM-13-0057
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2014 (february 2014)  
Detailed record - Creative Commons
4.
5 p, 1.5 MB Brown tumor of the jaw after pregnancy and lactation in a MEN1 patient / Casteràs, Anna (Hospital Universitari Vall d'Hebron) ; Darder, Lídia (Hospital Universitari Vall d'Hebron) ; Zafón, Carles (Hospital Universitari Vall d'Hebron) ; Hueto Madrid, Juan Antonio (Hospital Universitari Vall d'Hebron) ; Alberola Ferranti, Margarita (Hospital Universitari Vall d'Hebron) ; Caubet, Enric (Hospital Universitari Vall d'Hebron) ; Mesa Manteca, Jordi (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona. Departament de Medicina ; Universitat Autònoma de Barcelona. Departament de Cirurgia ; Universitat Autònoma de Barcelona. Departament de Ciències Morfològiques
Skeletal manifestations of primary hyperparathyroidism (pHPT) include brown tumors (BT), which are osteoclastic focal lesions often localized in the jaws. Brown tumors are a rare manifestation of pHTP in Europe and USA; however, they are frequent in developing countries, probably related to vitamin D deficiency and longer duration and severity of disease. [...]
2016 - 10.1530/EDM-16-0111
Endocrinology, Diabetes & Metabolism Case Reports, (November 2016) , ID 16-0111  
Detailed record - Creative Commons

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