Results 41 to 50 of about 5,906 (249)
Hipofosforemia precoz en recién nacidos de riesgo. Frecuencia y magnitud
Resumen: Objetivo: Conocer la frecuencia y la magnitud de la hipofosforemia neonatal (
Gerardo Bustos Lozano +5 more
doaj +1 more source
Seeing double: the low-carb diet [PDF]
No abstract ...
Drummond, Russell S. +4 more
core +1 more source
Not required for Clinical Vignette.
Rimesh Pal +5 more
doaj +1 more source
Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark +2 more
core +3 more sources
Association of hypokalaemia and hypophosphataemia [PDF]
A prospective study of 13 patients with hypokalaemia due to a variety of causes demonstrated that six had hypophosphataemia. In 10 patients the plasma inorganic phosphate level rose on correction of the hypokalaemia. Before treatment seven patients had an excessive rate of excretion of phosphate relative to creatinine in the urine. Following correction
D C, Anderson, T J, Peters, W K, Stewart
openaire +2 more sources
Oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome associated with mesenchymal tumours. It is characterised by phosphaturia, hypophosphataemia, decreased serum Vitamin D3 levels and severe osteomalacia. OOM-inducing tumours are usually benign,
Alka Verma +2 more
doaj +1 more source
Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule.
Ana Castellano-Martinez +3 more
doaj +1 more source
The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel +44 more
core +1 more source
An uncommon cause of hypophosphataemia
A woman aged 21 years underwent a diagnostic laparoscopy and appendicectomy for undifferentiated abdominal pain. She re-presented two days later with persistent fever, ongoing abdominal pain, vomiting and anorexia. At admission she was noted to be profoundly hypophosphataemic (0.21 mmol/L) with a normal corrected calcium (2.14 mmol/L).
Vardesh, Deepak L +2 more
openaire +3 more sources
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
core +2 more sources

