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16,136 results
  • Nationwide Hypophosphatemic Rickets Cohort Study [Journal Article]
    J Clin Res Pediatr Endocrinol 2019Şıklar Z, Turan S, … Berberoğlu M
  • CONCLUSIONS: HR treatment and follow-up is challenging and our results showed higher treatment doses leading nephrocalcinosis without any change in serum levels, suggesting given higher doses lead higher phoshaturia probably through the stimulation FGF23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.
  • Revisiting hereditary tyrosinemia Type 1-spectrum of radiological findings. [Journal Article]
    BJR Case Rep 2019; 5(2):20180001Shaikh S, Qureshi A, Faiq SM
  • Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling porphyrias. The complications that can develop with…
  • Oral Rehabilitation of a Pediatric Patient with Vitamin D-dependent Rickets II: A Rare Case Report. [Case Reports]
    Int J Clin Pediatr Dent 2019 Jan-Feb; 12(1):73-75Chhonkar A, Gupta A, … Kapoor V
  • Vitamin D-dependent rickets (VDDR) is a disorder of bone development characterized by softened weak bones. It is of two types-vitamin D-dependent rickets-I (VDDR-I) and vitamin D-dependent rickets type II (VDDR-II). Vitamin D-dependent rickets type II is a rare autosomal recessive disorder. The patients exhibit characteristic clinical features as well as numerous dental manifestations such as hyp…
  • FGF23, Hypophosphatemia, and Emerging Treatments. [Review]
    JBMR Plus 2019; 3(8):e10190Imel EA, Biggin A, … Munns CF
  • FGF23 is an important hormonal regulator of phosphate homeostasis. Together with its co-receptor Klotho, it modulates phosphate reabsorption and both 1α-hydroxylation and 24-hydroxylation in the renal proximal tubules. The most common FGF23-mediated hypophosphatemia is X-linked hypophosphatemia (XLH), caused by mutations in the PHEX gene. FGF23-mediated forms of hypophosphatemia are characterized…
  • Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice. [Review]
    Adv Exp Med Biol 2019; 1148:279-322Bowden SA, Foster BL
  • Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization characterized by low serum alkaline phosphatase. HPP is caused by loss-of-function mutations in the ALPL gene encoding the protein, tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is expressed by mineralizing cells of the skeleton and dentition and is associated with the mineralization process. Gen…
  • Successful management of tertiary hyperparathyroidism associated with hypophosphataemic rickets in an adult. [Case Reports]
    J Musculoskelet Neuronal Interact 2019; 19(3):370-373Anagnostis P, Vamvakidis K, Tournis S
  • Tertiary hyperparathyroidism (THP) is a rare complication in patients with hypophosphataemic rickets (HR), usually related to long-term management with active vitamin D analogues and oral phosphate salts. If left untreated, THP may aggravate bone and renal disease. We report a case of THP, which developed during the course of HR. Preoperatively, cinacalcet administration along with gradual increa…
  • Dent disease: A window into calcium and phosphate transport. [Review]
    J Cell Mol Med 2019Anglani F, Gianesello L, … Lieske J
  • This review examines calcium and phosphate transport in the kidney through the lens of the rare X-linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC-5, a Cl- /H+ antiporter localized to early endosomes of the proximal tubule (PT). Phenotypic features commonly include low molecular weight proteinuria (LMWP), hypercalciuria, focal g…
  • Cord serum vitamin D in a South China birth cohort. [Journal Article]
    Asia Pac J Clin Nutr 2019; 28(3):544-549Zhang JY, Wang J, … Lash GE
  • CONCLUSIONS: Summer born infants have higher serum 25OHD levels at birth, but there are still infants being born with vitamin D deficiency. Vitamin D containing supplement use during pregnancy was effective in raising cord serum vitamin D levels.
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