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Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 1, p. 103, doi. 10.1111/cen.13347
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- Publication type:
- Article
The Molecular Genetic Background of Familial Hypercholesterolemia: Data From the Slovak Nation-Wide Survey.
- Published in:
- Physiological Research, 2017, v. 66, n. 1, p. 75, doi. 10.33549/physiolres.933348
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- Publication type:
- Article
Hypophosphatemic Rickets in Siblings: A Rare Case Report.
- Published in:
- 2016
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- Publication type:
- Case Study
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - Update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.225
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- Publication type:
- Article
Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.176
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- Publication type:
- Article
Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 790, doi. 10.1038/ejhg.2014.199
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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
Familial Hypercholesterolemia: From Diagnosis to Treatment.
- Published in:
- Iranian Journal of Diabetes & Obesity (IJDO), 2014, v. 6, n. 4, p. 186
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- Publication type:
- Article
Clinical approach in familial hypophosphatemic rickets: report of three generations.
- Published in:
- Special Care in Dentistry, 2013, v. 33, n. 6, p. 304, doi. 10.1111/j.1754-4505.2012.00310.x
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- Publication type:
- Article
Familial hypomagnesemia hypercalciuria with nephrocalcinosis: A rare cause of rickets.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S376
- Publication type:
- Article
MEPE-Derived ASARM Peptide Inhibits Odontogenic Differentiation of Dental Pulp Stem Cells and Impairs Mineralization in Tooth Models of X-Linked Hypophosphatemia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056749
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- Publication type:
- Article
Hypophosphatemia during continuous hemodialysis is associated with prolonged respiratory failure in patients with acute kidney injury.
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 11, p. 3508, doi. 10.1093/ndt/gfr075
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- Publication type:
- Article
Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp mice.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1883, doi. 10.1002/jbmr.401
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- Publication type:
- Article
REPEATED VENOUS SAMPLING FOR DETERMINATION OF A GRADIENT OF FIBROBLAST GROWTH FACTOR 23 FOR LOCALIZATION OF AN OSTEOMALACIA CAUSING TUMOR.
- Published in:
- 2011
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- Publication type:
- Case Study
A clinician's guide to X-linked hypophosphatemia.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 7, p. 1381, doi. 10.1002/jbmr.340
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- Publication type:
- Article
Familial hypophosphatemic rickets.
- Published in:
- 2011
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- Publication type:
- Letter
Tetraplejik Bir Olguda Hipofosfatemiye Bağlı Gelişen Ölüm.
- Published in:
- Journal of Physical Medicine & Rehabilitation Sciences, 2011, v. 14, n. 2, p. 51
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- Publication type:
- Article
Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review.
- Published in:
- Clinical Rheumatology, 2011, v. 30, n. 4, p. 585, doi. 10.1007/s10067-010-1607-z
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- Publication type:
- Article
Anti-FGF-23 neutralizing antibodies ameliorate muscle weakness and decreased spontaneous movement of Hyp mice.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 4, p. 803, doi. 10.1002/jbmr.275
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- Publication type:
- Article
Severe osteomalacia caused by short bowel syndrome in a patient on long-term hemodialysis after parathyroidectomy.
- Published in:
- 2011
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- Publication type:
- journal article
Tertiary excess of fibroblast growth factor 23 and hypophosphatemia following kidney transplantation.
- Published in:
- Pediatric Transplantation, 2011, v. 15, n. 1, p. 37, doi. 10.1111/j.1399-3046.2010.01405.x
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- Publication type:
- Article
Phosphate-containing dialysis solution prevents hypophosphatemia during continuous renal replacement therapy.
- Published in:
- Acta Anaesthesiologica Scandinavica, 2011, v. 55, n. 1, p. 39, doi. 10.1111/j.1399-6576.2010.02338.x
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- Publication type:
- Article
Hypophosphatemia in vitamin D receptor null mice: effect of rescue diet on the developmental changes in renal Na-dependent phosphate cotransporters.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2011, v. 461, n. 1, p. 77, doi. 10.1007/s00424-010-0888-z
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- Publication type:
- Article
Immeasurable Levels of Serum Phosphate -- An Unidentified Cause of Respiratory Failure in a Diabetic Patient.
- Published in:
- Collegium Antropologicum, 2010, v. 34, n. 4, p. 1457
- Publication type:
- Article
The Case ∣ A 42-year-old male with 3-year bone pain and a soft tissue mass.
- Published in:
- 2010
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- Publication type:
- Case Study
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 10, p. 2165, doi. 10.1002/jbmr.105
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- Publication type:
- Article
Familial hypophosphatemic rickets.
- Published in:
- Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2010, v. 28, n. 4, p. 302, doi. 10.4103/0970-4388.76163
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- Publication type:
- Article
Systematic Review and Meta-analysis: Renal Safety of Tenofovir Disoproxil Fumarate in HIV-Infected Patients.
- Published in:
- Clinical Infectious Diseases, 2010, v. 51, n. 5, p. 496, doi. 10.1086/655681
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- Publication type:
- Article
Chronic Musculoskeletal Pain in Females as a Manifestation of Vitamin D Deficiency in Saudi Arabia.
- Published in:
- Ibnosina Journal of Medicine & Biomedical Sciences, 2010, v. 2, n. 5, p. 205, doi. 10.4103/1947-489X.211000
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- Publication type:
- Article
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.
- Published in:
- 2010
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- Publication type:
- journal article
FGF23: Phosphate Metabolism and Beyond.
- Published in:
- IBMS BoneKEy, 2010, v. 7, n. 8, p. 268, doi. 10.1138/20100458
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- Publication type:
- Article
Hypophosphatemia: An Evidence-based Problem-Solving Approach to Clinical Cases.
- Published in:
- Iranian Journal of Kidney Diseases, 2010, v. 4, n. 3, p. 195
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- Publication type:
- Article
Expression and distribution of SIBLING proteins in the predentin/dentin and mandible of hyp mice.
- Published in:
- Oral Diseases, 2010, v. 16, n. 5, p. 453, doi. 10.1111/j.1601-0825.2010.01656.x
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- Publication type:
- Article
Medication-induced hypophosphatemia: a review.
- Published in:
- QJM: An International Journal of Medicine, 2010, v. 103, n. 7, p. 449, doi. 10.1093/qjmed/hcq039
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- Publication type:
- Article
BIOELEMENTS AND EATING DISORDERS -- ASPECTS OF THE QUALITY OF LIFE.
- Published in:
- Journal of Elementology, 2010, v. 15, n. 2, p. 405
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- Publication type:
- Article
Refractory Rickets in the Tropics.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 6, p. 597, doi. 10.1515/jpem.2010.098
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- Publication type:
- Article
Hypophosphataemic rickets/osteomalacia -- is there light at the end of the tunnel?
- Published in:
- 2010
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- Publication type:
- Opinion
‘Refeeding Syndrome’ in a Kuwaiti Child: Clinical Diagnosis and Management.
- Published in:
- Medical Principles & Practice, 2010, v. 19, n. 3, p. 240, doi. 10.1159/000285303
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- Publication type:
- Article
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
- Published in:
- Journal of Bone & Mineral Metabolism, 2010, v. 28, n. 1, p. 111, doi. 10.1007/s00774-009-0111-5
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- Publication type:
- Article
Inactivation of klotho function induces hyperphosphatemia even in presence of high serum fibroblast growth factor 23 levels in a genetically engineered hypophosphatemic (Hyp) mouse model.
- Published in:
- FASEB Journal, 2009, v. 23, n. 11, p. 3702, doi. 10.1096/fj.08-123992
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- Publication type:
- Article
Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.
- Published in:
- European Journal of Endocrinology, 2009, v. 161, n. 4, p. 647, doi. 10.1530/EJE-09-0261
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- Publication type:
- Article
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice.
- Published in:
- 2009
- By:
- Publication type:
- journal article
ACIDOZA TUBULARĂ RENALĂ DISTALĂ - OBSERVAŢIA A DOUĂ CAZURI ÎNTR-O FRATRIE.
- Published in:
- Clujul Medical, 2009, v. 82, n. 3, p. 437
- By:
- Publication type:
- Article
Oncogenic osteomalacia from pterygopalatine fossa mass.
- Published in:
- Journal of Laryngology & Otology, 2009, v. 123, n. 9, p. 1052, doi. 10.1017/S0022215109004927
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- Publication type:
- Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
- Published in:
- Clinical & Experimental Nephrology, 2009, v. 13, n. 4, p. 288, doi. 10.1007/s10157-008-0126-6
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- Publication type:
- Article
Renal phosphate wasting due to tumor-induced osteomalacia: a frequently delayed diagnosis.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Fractura diafisaria del tercio medio de fémur en paciente con raquitismo hipofosfatémico tratada con clavo centromedular bloqueado.
- Published in:
- Acta Ortopédica Mexicana, 2009, v. 23, n. 4, p. 193
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- Publication type:
- Article
Mortality after Nasogastric Tube Feeding Initiation in Long-Term Care Elderly with Oropharyngeal Dysphagia – The Contribution of Refeeding Syndrome.
- Published in:
- Gerontology, 2009, v. 55, n. 4, p. 393, doi. 10.1159/000218162
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- Publication type:
- Article
Sepsis und Rhabdomyolyse bei einem Tropenrückkehrer.
- Published in:
- Praxis (16618157), 2009, v. 98, n. 6, p. 339, doi. 10.1024/1661-8157.98.6.339
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- Publication type:
- Article
In this Issue.
- Published in:
- Kidney International, 2009, v. 75, n. 3, p. 247, doi. 10.1038/ki.2008.641
- Publication type:
- Article