Found: 19
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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
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
- Published in:
- 2023
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- Publication type:
- Case Study
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
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
- Published in:
- 2020
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- Publication type:
- journal 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
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
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
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
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
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
Sodium-coupled neutral amino acid transporter 4 functions as a regulator of protein synthesis during liver development.
- Published in:
- Hepatology Research, 2013, v. 43, n. 11, p. 1211, doi. 10.1111/hepr.12069
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- Publication type:
- Article
A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 575, doi. 10.1515/jpem-2013-0007
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- Publication type:
- Article
Both FGF23 and extracellular phosphate activate Raf/MEK/ERK pathway via FGF receptors in HEK293 cells.
- Published in:
- Journal of Cellular Biochemistry, 2010, v. 111, n. 5, p. 1210, doi. 10.1002/jcb.22842
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- Publication type:
- Article
PTH/cAMP/PKA signaling facilitates canonical Wnt signaling via inactivation of glycogen synthase kinase-3β in osteoblastic Saos-2 cells.
- Published in:
- Journal of Cellular Biochemistry, 2008, v. 104, n. 1, p. 304, doi. 10.1002/jcb.21626
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- Publication type:
- Article
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
- Published in:
- 2005
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- Publication type:
- journal article