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Found 14 publications

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.

Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.

Genetic and clinical analysis of X-linked hypophosphatemic rickets.

Subcutaneous fat necrosis in an infant with hypoxic ischaemic encephalopathy stage 3: an uncommon association.

Renal tubular distal acidosis: nephrocalcinosis as initial diagnosis.

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Hypertension in a patient with medullary sponge kidney: A case report.

Renal tubular acidosis (RTA) and kidney stones: Diagnosis and management.

Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones.

Nephrocalcinosis, Renal Dysfunction, and Calculi in Patients With Primary Hypoparathyroidism on Long-Term Conventional Therapy.

Hypomagnesemia and Survival in Patients with Ovarian Cancer Who Received Chemotherapy with Carboplatin.

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.

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