Found: 18
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Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. e998, doi. 10.1210/clinem/dgad223
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- Publication type:
- Article
Expanding the Phenotypic Spectrum of Kenny--Caffey Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. e754, doi. 10.1210/clinem/dgad147
- By:
- Publication type:
- Article
Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".
- Published in:
- 2022
- By:
- Publication type:
- Letter
A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 11, p. 1481, doi. 10.1515/jpem-2021-0165
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- Publication type:
- Article
Differential diagnosis of vitamin D–related hypercalcemia using serum vitamin D metabolite profiling.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 7, p. 1340, doi. 10.1002/jbmr.4306
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- Publication type:
- Article
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)<sub>2</sub>D<sub>3</sub> in Affected Patients.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 7, p. 1589, doi. 10.1002/jbmr.3135
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- Publication type:
- Article
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 1, p. 101, doi. 10.4274/jcrpe.2254
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- Publication type:
- Article
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
- Published in:
- Kidney & Blood Pressure Research, 2015, v. 40, n. 5, p. 443, doi. 10.1159/000368520
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- Publication type:
- Article
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 4, p. 636, doi. 10.1093/ndt/gfu374
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- Publication type:
- Article
Inherited disorders of renal hypomagnesaemia.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv63, doi. 10.1093/ndt/gfu198
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- Publication type:
- Article
Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.
- Published in:
- 2014
- By:
- Publication type:
- research
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 497, doi. 10.1038/ejhg.2013.178
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- Publication type:
- Article
A lifetime of hypercalcemia and hypercalciuria, finally explained.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 12, p. 2361, doi. 10.1007/s00467-009-1287-6
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- Publication type:
- Article
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 8, p. 1036, doi. 10.1007/s00467-005-1977-7
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- Publication type:
- Article