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| Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report | |
| Seok Jin Kang, Rosie Lee, Heung Sik Kim | |
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Ann Pediatr Endocrinol Metab. 2019;24(1):64-67. Published online March 31, 2019 DOI: https://doi.org/10.6065/apem.2019.24.1.64 |
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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report Annals of Pediatric Endocrinology & Metabolism. 2019;24(1):64-67  Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene Hormone Research in Paediatrics. 2018;91(4):278-284 Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report BMC Pediatrics. 2019;19(1): MON-255 A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia Journal of the Endocrine Society. 2019;3(Supplement_1): Poster 97 An Unusual Case of Limb Girdle Muscular Dystrophy 2A Carrying a Novel Heterozygous Calpain-3 Gene Mutation: A Case Report PM&R. 2014;6(9):S217 Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report Journal of International Medical Research. 2020;48(3):030006051989614 Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene Dermatologica Sinica. 2018;36(4):200-202 Identification of the First Sodium Binding Site of the Phosphate Cotransporter NaPi-IIa (SLC34A1) Biophysical Journal. 2015;108(10):2465-2480 The role of NHERF-1 in the regulation of renal proximal tubule sodium-hydrogen exchanger 3 and sodium-dependent phosphate cotransporter 2a The Journal of Physiology. 2005;567(1):27-32 Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delay . 2021; |
