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CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia
Jens Otto Broby Madsen, Sabrina Sauer, Bodo Beck,
Jesper Johannesen
Institut for Klinisk Medicin
3
Citationer (Scopus)
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Keyphrases
Hypercalcemia
100%
Vitamin D Supplementation
100%
Disease-causing mutations
66%
Vomiting
33%
Etiology
33%
Anorexia
33%
Vitamin D Metabolism
33%
Failure to Thrive
33%
Water Consumption
33%
Genetic Testing
33%
Behavior Problems
33%
Polydipsia
33%
Renal Ultrasound
33%
Vitamin D Status
33%
Long-term Complications
33%
Vitamin D
33%
Blood Test
33%
Compound Heterozygous mutation
33%
Excessive Consumption
33%
Typical Symptoms
33%
Enhanced Awareness
33%
Medicine and Dentistry
Hypercalcaemia
100%
Vitamin D
100%
CYP24A1
100%
Supplementation
60%
Diseases
40%
Isoprenaline
20%
Failure to Thrive
20%
Anorexia
20%
Vitamin D Metabolism
20%
Isotopes of Calcium
20%
Genetic Screening
20%
Awareness
20%
Pharmacology, Toxicology and Pharmaceutical Science
Hypercalcaemia
100%
Vitamin D
100%
Colecalciferol 24 Hydroxylase
100%
Kidney Calcification
33%
Diseases
33%
Failure to Thrive
16%
Anorexia
16%
Isoprenaline
16%
Polydipsia
16%
Biochemistry, Genetics and Molecular Biology
CYP24A1
100%
Hypercalcaemia
100%
Vitamin D
100%
Awareness
20%
Vitamin D Metabolism
20%
Genetic Screening
20%
Isoprenaline
20%