Millan JL, Whyte MP (2016) Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int 98(4):398–416
Article CAS PubMed Google Scholar
Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M (2014) Clinical utility gene card for: hypophosphatasia - update 2013. Eur J Human Genet: EJHG. https://doi.org/10.1038/ejhg.2013.177
Whyte MP (2016) Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12(4):233–246
Article CAS PubMed Google Scholar
Hypophosphatasia FD (1957) Am J Med 22(5):730–746
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC et al (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229–239
Article CAS PubMed Google Scholar
Whyte MP (2017) Hypophosphatasia: An overview For 2017. Bone 102:15–25
Article CAS PubMed Google Scholar
Tornero C, de Miguel E, Navarro-Compán V, Balsa A, Aguado P (2024) Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study. JBMR Plus. https://doi.org/10.1093/jbmrpl/ziae124
Article PubMed PubMed Central Google Scholar
Imamura H, Adachi T, Zhu W, Yamamoto T, Kanamura N, Onoda H et al (2024) Raman spectroscopic analysis of molecular structure and mechanical properties of hypophosphatasia primary tooth. Molecules. https://doi.org/10.3390/molecules29246049
Article PubMed PubMed Central Google Scholar
Calderón-Ospina CA, Nava-Mesa MO (2020) B Vitamins in the nervous system: Current knowledge of the biochemical modes of action and synergies of thiamine, pyridoxine, and cobalamin. CNS Neurosci Ther 26(1):5–13
Millan JL, Whyte MP (2015) Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. https://doi.org/10.1007/s00223-015-0079-1
Article PubMed PubMed Central Google Scholar
Liedtke D, Hofmann C, Jakob F, Klopocki E, Graser S (2020) Tissue-nonspecific alkaline phosphatase-a gatekeeper of physiological conditions in health and a modulator of biological environments in disease. Biomolecules. https://doi.org/10.3390/biom10121648
Article PubMed PubMed Central Google Scholar
Kuehn K, Hahn A, Seefried L (2020) Mineral intake and clinical symptoms in adult patients with hypophosphatasia. J Clin Endocrinol Metab. https://doi.org/10.1210/clinem/dgaa324
Kuehn K, Hahn A, Seefried L (2023) Impact of restricted phosphorus, calcium-adjusted diet on musculoskeletal and mental health in hypophosphatasia. J Endocr Soc. https://doi.org/10.1210/jendso/bvad150
Article PubMed PubMed Central Google Scholar
Colazo JM, Hu JR, Dahir KM, Simmons JH (2019) Neurological symptoms in hypophosphatasia. Osteoporos Int 30(2):469–480
Article CAS PubMed Google Scholar
Behanova M, Medibach A, Haschka J, Kraus D, Raimann A, Mindler GT et al (2024) Health-related quality of life and fatigue in adult rare bone disease patients: A cross-sectional study from Austria. Bone 181:117034
Graser S, Mentrup B, Schneider D, Klein-Hitpass L, Jakob F, Hofmann C (2015) Overexpression of tissue-nonspecific alkaline phosphatase increases the expression of neurogenic differentiation markers in the human SH-SY5Y neuroblastoma cell line. Bone 79:150–161
Article CAS PubMed Google Scholar
Graser S, Liedtke D, Jakob F (2021) TNAP as a new player in chronic inflammatory conditions and metabolism. Int J Mol Sci. https://doi.org/10.3390/ijms22020919
Article PubMed PubMed Central Google Scholar
Haraikawa M, Tanabe R, Sogabe N, Sugimoto A, Kawamura Y, Michigami T et al (2012) A study of the association between serum bone-specific alkaline phosphatase and serum phosphorus concentration or dietary phosphorus intake. J Nutr Sci Vitaminol (Tokyo) 58(6):442–445
Article CAS PubMed Google Scholar
López-Posadas R, González R, Ballester I, Martínez-Moya P, Romero-Calvo I, Suárez MD et al (2011) Tissue-nonspecific alkaline phosphatase is activated in enterocytes by oxidative stress via changes in glycosylation. Inflamm Bowel Dis 17(2):543–556
Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH et al (2018) Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis. EMBO Mol Med. https://doi.org/10.15252/emmm.201708483
Article PubMed PubMed Central Google Scholar
Sebastián-Serrano Á, Engel T, de Diego-García L, Olivos-Oré LA, Arribas-Blázquez M, Martínez-Frailes C et al (2016) Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. Hum Mol Genet 25(19):4143–4156
Article PubMed PubMed Central Google Scholar
Sebastián-Serrano Á, de Diego-García L, Henshall DC, Engel T, Díaz-Hernández M (2018) Haploinsufficient TNAP mice display decreased extracellular ATP levels and expression of pannexin-1 channels. Front Pharmacol 9:170
Article PubMed PubMed Central Google Scholar
Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL et al (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 10:51
Article PubMed PubMed Central Google Scholar
Halling Linder C, Narisawa S, Millan JL, Magnusson P (2009) Glycosylation differences contribute to distinct catalytic properties among bone alkaline phosphatase isoforms. Bone 45(5):987–993
Article CAS PubMed Google Scholar
Tilden DR, Sheehan JH, Newman JH, Meiler J, Capra JA, Ramirez A et al (2020) Phenotypic profiling in subjects heterozygous for 1 of 2 rare variants in the hypophosphatasia gene (ALPL). J Endocr Soc. https://doi.org/10.1210/jendso/bvaa084
Article PubMed PubMed Central Google Scholar
Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno G et al (2024) The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone 178:116947
Article CAS PubMed Google Scholar
Seefried L, Dahir K, Petryk A, Högler W, Linglart A, Martos-Moreno G et al (2020) Burden of illness in adults with hypophosphatasia: data from the global hypophosphatasia patient registry. J Bone Miner Res 35(11):2171–2178
Article CAS PubMed Google Scholar
Dahir K, Angel M, Linglart A (2022) Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations-a cross-sectional analysis. Endocrine. https://doi.org/10.1530/endoabs.81.P548
Dahir KM, Seefried L, Kishnani PS, Petryk A, Högler W, Linglart A et al (2022) Clinical profiles of treated and untreated adults with hypophosphatasia in the global HPP registry. Orphanet J Rare Dis 17(1):277
Article PubMed PubMed Central Google Scholar
Dahir KM, Kishnani PS, Martos-Moreno G, Linglart A, Petryk A, Rockman-Greenberg C et al (2023) Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: a cross-sectional analysis from the Global HPP Registry. Front Endocrinol (Lausanne) 14:1138599
Högler W, Langman C, da Gomes SH, Fang S, Linglart A, Ozono K et al (2019) Diagnostic delay is common among patients with hypophosphatasia initial findings from a longitudinal prospective global registry. BMC Musculoskelet Disord. https://doi.org/10.1186/s12891-019-2420-8
Comments (0)