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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63612
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- Publication type:
- Article
The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult‐Onset Hypophosphatasia.
- Published in:
- JBMR Plus, 2023, v. 7, n. 12, p. 1, doi. 10.1002/jbm4.10842
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- Publication type:
- Article
A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 3, p. 180, doi. 10.1297/cpe.2023-0019
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- Publication type:
- Article
Paracrine and endocrine functions of osteocytes.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 1, p. 1, doi. 10.1297/cpe.2022-0053
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- Publication type:
- Article
Meclozine ameliorates bone mineralization and growth plate structure in a mouse model of X‑linked hypophosphatemia.
- Published in:
- Experimental & Therapeutic Medicine, 2023, v. 25, n. 1, p. N.PAG
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- Publication type:
- Article
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
- Published in:
- 2023
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- Publication type:
- Case Study
Factors associated with 1-year changes in serum fibroblast growth factor 23 levels in pediatric patients with chronic kidney disease.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 10, p. 1014, doi. 10.1007/s10157-022-02238-5
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- Publication type:
- Article
Osteocytes and the pathogenesis of hypophosphatemic rickets.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1005189
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- Publication type:
- Article
Lack of Bmal1, a Core Clock Gene, in the Intestine Decreases Glucose Absorption in Mice.
- Published in:
- Endocrinology, 2022, v. 163, n. 9, p. 1, doi. 10.1210/endocr/bqac119
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- Publication type:
- Article
Advances in understanding of phosphate homeostasis and related disorders.
- Published in:
- Endocrine Journal, 2022, v. 69, n. 8, p. 881, doi. 10.1507/endocrj.ej22-0239
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- Publication type:
- Article
Roles of osteocytes in phosphate metabolism.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.967774
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- Publication type:
- Article
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
- Published in:
- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 5, p. 804, doi. 10.1007/s00774-021-01219-0
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- Publication type:
- Article
Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets.
- Published in:
- Endocrine Journal, 2021, v. 68, n. 7, p. 807, doi. 10.1507/endocrj.ej20-0622
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- Publication type:
- Article
Lack of PTEN in osteocytes increases circulating phosphate concentrations by decreasing intact fibroblast growth factor 23 levels.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78692-6
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- Publication type:
- Article
Reduction in urinary angiotensinogen levels and improvement of proteinuria by renin–angiotensin system blockade in pediatric chronic kidney disease patients with very low birth weight.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 7, p. 1307, doi. 10.1007/s00467-020-04520-8
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- Publication type:
- Article
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
- Published in:
- 2020
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- Publication type:
- journal article
Cleidocranial dysplasia with growth hormone deficiency: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical Practice Guidelines for Hypophosphatasia.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 1, p. 9, doi. 10.1297/cpe.29.9
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- Publication type:
- Article
Clinical Practice Guidelines for Achondroplasia.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 1, p. 25, doi. 10.1297/cpe.29.25
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- Publication type:
- Article
Skeletal mineralization: mechanisms and diseases.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 4, p. 213, doi. 10.6065/apem.2019.24.4.213
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- Publication type:
- Article
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0222931
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- Publication type:
- Article
Bisphosphonate Use and Fractures in Adults with Hypophosphatasia.
- Published in:
- JBMR Plus, 2019, v. 3, n. 10, p. N.PAG, doi. 10.1002/jbm4.10223
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- Publication type:
- Article
CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1183, doi. 10.1093/hmg/ddy428
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- Publication type:
- Article
CYP7A1 expression in hepatocytes is retained with upregulated fibroblast growth factor 19 in pediatric biliary atresia.
- Published in:
- Hepatology Research, 2019, v. 49, n. 3, p. 314, doi. 10.1111/hepr.13245
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- Publication type:
- Article
A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature.
- Published in:
- Clinical Pediatric Endocrinology, 2018, v. 27, n. 3, p. 179, doi. 10.1297/cpe.27.179
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- Publication type:
- Article
Cover Image, Volume 176A, Number 1, January 2018.
- Published in:
- 2018
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- Publication type:
- Other
Discordant fetal phenotype of hypophosphatasia in two siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 171, doi. 10.1002/ajmg.a.38531
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- Publication type:
- Article
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 1, p. 10, doi. 10.1111/cen.13343
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- Publication type:
- Article
Risk factors associated with a decreased estimated glomerular filtration rate based on cystatin C levels in school-age children with extremely low birthweight.
- Published in:
- Nephrology, 2017, v. 22, n. 6, p. 463, doi. 10.1111/nep.12807
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- Publication type:
- Article
Extracellular Phosphate Induces the Expression of Dentin Matrix Protein 1 Through the FGF Receptor in Osteoblasts.
- Published in:
- Journal of Cellular Biochemistry, 2017, v. 118, n. 5, p. 1151, doi. 10.1002/jcb.25742
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- Publication type:
- Article
Assessment criteria for vitamin D deficiency/insufficiency in Japan -- proposal by an expert panel supported by Research Program of Intractable Diseases, Ministry of Health, Labour and Welfare, Japan, The Japanese Society for Bone and Mineral Research and The Japan Endocrine Society
- Published in:
- Endocrine Journal, 2017, v. 64, n. 1, p. 1, doi. 10.1507/endocrj.ej16-0548
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- Publication type:
- Article
Assessment criteria for vitamin D deficiency/insufficiency in Japan: proposal by an expert panel supported by the Research Program of Intractable Diseases, Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research and the Japan Endocrine Society [Opinion].
- Published in:
- 2017
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- Publication type:
- journal article
Effects of drug discontinuation after short-term daily alendronate administration on osteoblasts and osteocytes in mice.
- Published in:
- Histochemistry & Cell Biology, 2016, v. 146, n. 3, p. 337, doi. 10.1007/s00418-016-1450-7
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- Publication type:
- Article
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.
- Published in:
- 2016
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- Publication type:
- journal article
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 2, p. 83, doi. 10.1159/000443136
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- Publication type:
- Article
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.
- Published in:
- 2016
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- Publication type:
- journal article
Current concepts in perinatal mineral metabolism.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 1, p. 9, doi. 10.1297/cpe.25.9
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- Publication type:
- Article
Nationwide survey of fibroblast growth factor 23 (FGF23)- related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment.
- Published in:
- Endocrine Journal, 2015, v. 62, n. 9, p. 811, doi. 10.1507/endocrj.ej15-0275
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- Publication type:
- Article
Pathogenesis and diagnostic criteria for rickets and osteomalacia-proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society.
- Published in:
- Journal of Bone & Mineral Metabolism, 2015, v. 33, n. 5, p. 467, doi. 10.1007/s00774-015-0698-7
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- Publication type:
- Article
Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 9, p. 1726, doi. 10.1002/jbmr.2495
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- Publication type:
- Article
Pathogenesis and diagnostic criteria for rickets and osteomalacia -Proposal by an expert panel supported by Ministry of Health, Labour and Welfare, Japan, The Japanese Society for Bone and Mineral Research and The Japan Endocrine Society.
- Published in:
- Endocrine Journal, 2015, v. 62, n. 8, p. 665, doi. 10.1507/endocrj.ej15-0289
- By:
- Publication type:
- Article
Interleukin-1-induced acute bone resorption facilitates the secretion of fibroblast growth factor 23 into the circulation.
- Published in:
- Journal of Bone & Mineral Metabolism, 2015, v. 33, n. 3, p. 342, doi. 10.1007/s00774-014-0598-2
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- Publication type:
- Article
A Fatal Case of Infantile Malignant Osteopetrosis Complicated by Pulmonary Arterial Hypertension after Hematopoietic Stem Cell Transplantation.
- Published in:
- Tohoku Journal of Experimental Medicine, 2014, v. 234, n. 4, p. 309, doi. 10.1620/tjem.234.309
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- Publication type:
- Article
Elevated Fibroblast Growth Factor 23 Exerts Its Effects on Placenta and Regulates Vitamin D Metabolism in Pregnancy of Hyp Mice.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 7, p. 1627, doi. 10.1002/jbmr.2186
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- Publication type:
- Article
Dysregulated Gene Expression in the Primary Osteoblasts and Osteocytes Isolated from Hypophosphatemic <i>Hyp</i> Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093840
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- Publication type:
- Article
Benign prenatal hypophosphatasia: a treatable disease not to be missed.
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 3, p. 340, doi. 10.1007/s00247-013-2805-z
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- Publication type:
- Article
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 ( NPR2) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 156, doi. 10.1002/ajmg.a.36218
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- Publication type:
- Article
Current Understanding on the Molecular Basis of Chondrogenesis.
- Published in:
- Clinical Pediatric Endocrinology, 2014, v. 23, n. 1, p. 1, doi. 10.1297/cpe.23.1
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- Publication type:
- Article
Regulatory mechanisms for the development of growth plate cartilage.
- Published in:
- Cellular & Molecular Life Sciences, 2013, v. 70, n. 22, p. 4213, doi. 10.1007/s00018-013-1346-9
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- Publication type:
- Article