Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome-Reference-Cited by-同舟云学术

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome

Published:2015 Issue: Volume: Page:343-361
ISSN:0306-0225
Container-title:Subcellular Biochemistry
language:
Short-container-title:

Author:

Cole David E. C.,Thompson Miles D.

Publisher

Springer Netherlands

Link

http://link.springer.com/content/pdf/10.1007/978-94-017-7197-9_16

Reference32 articles.

1. Anderson BB, O’Brien H, Griffin GE, Mollin DL (1980) Hydrolysis of pyridoxal-5′-phosphate in plasma in conditions with raised alkaline phosphate. Gut 21(3):192–194

2. Brun-Heath I, Ermonval M, Chabrol E, Xiao J, Palkovits M, Lyck R, Miller F, Couraud PO, Mornet E, Fonta C (2011) Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues. Cell Tissue Res 343(3):521–536. doi: 10.1007/s00441-010-1111-4

3. Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y (2014) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet 51(3):203–207. doi: 10.1136/jmedgenet-2013-102156

4. Cole D, Whyte M (1997) Hyperphosphatasia syndromes. In: Cohen M Jr, Baum B (eds) Studies in stomatology and craniofacial biology. IOS Press, Amsterdam, pp 245–272

5. Dakshinamurti K, Sharma SK, Geiger JD (2003) Neuroprotective actions of pyridoxine. Biochim Biophys Acta 1647(1–2):225–229

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unlocking cell surface enzymes: A review of chemical strategies for detecting enzymatic activity;Analytica Chimica Acta;2024-08

2. Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases;Genes;2024-05-31

3. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders;Genes;2024-05-14

4. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3);Genes;2023-01-30

5. Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy;Bone;2020-09