Results 41 to 50 of about 4,884 (208)
ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins
Human Mutation, Volume 2026, Issue 1, 2026.Background and Aims Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue‐nonspecific alkaline phosphatase (ALP) activity. We investigated genotype–phenotype correlations in a monozygotic female twin pair with infantile HPP.
Luna Hao +8 more
wiley +1 more source
Saudi Journal of Kidney Diseases and Transplantation, 2017 Overactive bladder is a stressful condition which affects around 15%—20% of 5- year-old and up to 2% of young adults. One of the most common causes of overactive bladder is hypercalciuria.
Parsa Yousefichaijan +4 more
doaj +1 more source
Children, 2023 Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2
Teofana Otilia Bizerea-Moga +7 more
doaj +1 more source
Pathophysiology-based treatment of idiopathic calcium kidney stones [PDF]
, 2011 Idiopathic calcium oxalate (CaOx) stone-formers (ICSFs) differ from patients who make idiopathic calcium phosphate (CaP) stones (IPSFs). ICSFs, but not IPSFs, form their stones as overgrowths on interstitial apatite plaque; the amount of plaque covering ...
Coe, Fredric L. +2 more
core +1 more source
Urolithiasis and Osteoporosis: Clinical Relevance and Therapeutic Implications [PDF]
, 2009 Several clinical and epidemiological studies revealed increased bone turnover and lower bone mass in patients with urolithiasis. Bone mass loss is particularly evident in idiopathic calcium stone formers.
Ines Bilić-Ćurčić +5 more
core +1 more source
Recent finding and new technologies in nephrolithiasis: a review of the recent literature [PDF]
, 2013 This review summarizes recent literature on advances regarding renal and ureteral calculi, with particular focus in areas of recent advances in the overall field of urolithiasis.
Bove P +6 more
core +1 more source
The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease?
Nefrología (English Edition), 2019 Idiopathic hypercalciuria (IH) is defined as that clinical situation in which an increase in urinary calcium excretion is observed, in the absence of hypercalcemia and other known causes of hypercalciuria.
Víctor M. García Nieto +4 more
doaj +1 more source
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene [PDF]
, 2011 A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene.
Lam, CW, Tong, CT, Tong, SF, Wong, WC
core
Influence of nutrition on feline calcium oxalate urolithiasis with emphasis on endogenous oxalate synthesis [PDF]
, 2011 The prevalence of calcium oxalate (CaOx) uroliths detected in cats with lower urinary tract disease has shown a sharp increase over the last decades with a concomitant reciprocal decrease in the occurrence of struvite (magnesium ammonium phosphate ...
Baal, J., van +3 more
core +2 more sources
Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded
MedComm, Volume 6, Issue 7, July 2025.Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin +8 more
wiley +1 more source