Associated Papers
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
Christensen S et al.
Hormone Research in Paediatrics, 2021
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin A et al.
Frontiers in Endocrinology, 2021
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C et al.
Pflugers Archiv : European Journal of Physiology, 2019
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D et al.
Journal of the American Society of Nephrology : Jasn, 2014
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
Bhadada SK et al.
Aace Clinical Case Reports, 0
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