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X-linked hypophosphatemia osteomalacia : about 2 families
2012Les ostéomalacies secondaires à une fuite rénale du phosphate regroupent plusieurs entités dont le syndrome de Fanconi, l'ostéomalacie oncogénique, l'acidose tubulaire et l'hypophosphatémie familiale vitaminorésistante. Les formes héréditaires sont rares, nous rapportons le cas de 2 familles présentant une ostéomalacie hypophosphorémique vitamino ...
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Vnitrni lekarstvi, 2010
Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
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Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
openaire +2 more sources
Management of Familial Hypophosphatemia in Pregnancy
Endocrine Abstracts, 2019Tolulope Shonibare, Kofi Yamoah
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Familial Risks and Proportions Describing Population Landscape of Familial Cancer
Cancers, 2021Kari Hemminki +2 more
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Recent progress in Lynch syndrome and other familial colorectal cancer syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick M Boland +2 more
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