3 documents found, page 1 of 1
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with ...
Padeira, G; Cavaco, BM; Virella, D; Sá-Couto, H; Lopes, MLHeterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal seve...
Use of recycled c&d wastes in unpaved rural and forest roads feasibility analysis
Pereira, PM; Ferreira, FB; Castorina Silva Vieira; Lopes, ML; Maria de Lurdes Lopes; Fernanda Ferreira; Paulo PereiraIn recent years, environmental sustainability concerns associated with over exploitation of natural resources along with the need to manage large volumes of wastes have propelled the development and implementation of waste recycling and valorisation strategies in the construction sector. In particular, Construction and Demolition (C&D) wastes have been recognised by the European Commission as a priority stream ...
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone...
Collett-Solberg, PF; Ambler, G; Backeljauw, PF; Bidlingmaier, M; Biller, BMK; Boguszewski, MCS; Cheung, PT; Choong, CSY; Cohen, LE; Cohen, P; Dauber, AThe Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of sh...