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Page 1
Hypophosphatasia: A Unique Disorder of Bone Mineralization.
Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M. Villa-Suárez JM, et al. Int J Mol Sci. 2021 Apr 21;22(9):4303. doi: 10.3390/ijms22094303. Int J Mol Sci. 2021. PMID: 33919113 Free PMC article. Review.
These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. ...Although the phenotype c …
These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). It has been obs …
Hypophosphatasia: Canadian update on diagnosis and management.
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR. Khan AA, et al. Osteoporos Int. 2019 Sep;30(9):1713-1722. doi: 10.1007/s00198-019-04921-y. Epub 2019 Mar 26. Osteoporos Int. 2019. PMID: 30915507 Review.
Hypophosphatasia (HPP) is a rare inherited disorder of bone and mineral metabolism caused by loss of function mutations in the ALPL gene. ...The following consensus recommendations were developed based on the highest level of evidence as well as expert opinio …
Hypophosphatasia (HPP) is a rare inherited disorder of bone and mineral metabolism caused by loss of function mutations …
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S. Taketani T, et al. Arch Dis Child. 2014 Mar;99(3):211-5. doi: 10.1136/archdischild-2013-305037. Epub 2013 Nov 25. Arch Dis Child. 2014. PMID: 24276437
OBJECTIVE: We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes …
OBJECTIVE: We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone dis …
Bisphosphonates for osteoporosis in people with cystic fibrosis.
Jeffery TC, Chang AB, Conwell LS. Jeffery TC, et al. Cochrane Database Syst Rev. 2023 Jan 10;1(1):CD002010. doi: 10.1002/14651858.CD002010.pub5. Cochrane Database Syst Rev. 2023. PMID: 36625789 Free PMC article. Review.
BACKGROUND: Osteoporosis is a disorder of bone mineralisation occurring in about one third of adults with cystic fibrosis. ...At 12 months, bisphosphonates may increase bone mineral density at the lumbar spine (mean difference (MD) 6.31, 95% CI 5.39 to 7.22; …
BACKGROUND: Osteoporosis is a disorder of bone mineralisation occurring in about one third of adults with cystic fibros …
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.
Vanz AP, van de Sande Lee J, Pinheiro B, Zambrano M, Brizola E, da Rocha NS, Schwartz IVD, de Souza Pires MM, Félix TM. Vanz AP, et al. BMC Pediatr. 2018 Mar 2;18(1):95. doi: 10.1186/s12887-018-1077-z. BMC Pediatr. 2018. PMID: 29499676 Free PMC article.
BACKGROUND: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. ...Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the …
BACKGROUND: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. …
Paget disease of bone among hospitalized patients in Poland.
Kanecki K, Nitsch-Osuch A, Goryński P, Bogdan M, Tarka P, Tyszko PZ. Kanecki K, et al. Ann Agric Environ Med. 2018 Mar 14;25(1):182-185. doi: 10.26444/aaem/81080. Epub 2018 Feb 12. Ann Agric Environ Med. 2018. PMID: 29575853 Free article.
INTRODUCTION: Paget's disease (PDB) is a focal disorder of bone remodeling that occurs commonly in older people with decreasing prevalence reported in European countries. ...The number of PDB cases hospitalized in Poland significantly decreased during the ana …
INTRODUCTION: Paget's disease (PDB) is a focal disorder of bone remodeling that occurs commonly in older people with de …
The miRNA-144-5p/IRS1/AKT axis regulates the migration, proliferation, and mineralization of osteoblasts: A mechanism of bone repair in diabetic osteoporosis.
Miao M, Zhang Y, Wang X, Lei S, Huang X, Qin L, Shou D. Miao M, et al. Cell Biol Int. 2022 Dec;46(12):2220-2231. doi: 10.1002/cbin.11913. Epub 2022 Sep 28. Cell Biol Int. 2022. PMID: 36168858
Diabetic osteoporosis (DOP) is a disorder of bone metabolism induced by multiple mechanisms. Previous studies have revealed that microRNAs (miRNAs) play crucial roles in bone metabolism. ...Our results showed that HG inhibited bone formation not only in vivo …
Diabetic osteoporosis (DOP) is a disorder of bone metabolism induced by multiple mechanisms. Previous studies have reve …
TRANSIENT OSTEOPOROSIS: CLINICAL SPECTRUM IN ADULTS AND ASSOCIATED RISK FACTORS.
Kotwal A, Hurtado MD, Sfeir JG, Wermers RA. Kotwal A, et al. Endocr Pract. 2019 Jul;25(7):648-656. doi: 10.4158/EP-2018-0626. Epub 2019 Mar 13. Endocr Pract. 2019. PMID: 30865521
The next most frequent risk factors were sudden limb overuse and more than one episode of TO, observed in 30%, followed by a disorder of bone and mineral metabolism in 27%. ...
The next most frequent risk factors were sudden limb overuse and more than one episode of TO, observed in 30%, followed by a disor …
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Mikhail KA, VanSickle E, Rossetti LZ. Mikhail KA, et al. Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006260. doi: 10.1101/mcs.a006260. Print 2023 Feb. Cold Spring Harb Mol Case Stud. 2023. PMID: 36963805 Free PMC article.
Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. ...P3H1 encodes a collagen prolyl hydroxylase that critically 3-hydroxylates proline residue 986 on the alpha chain of collagen ty …
Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minima …
Size of tooth crowns and position of teeth concerning the extension of facial plexiform neurofibroma in patients with neurofibromatosis type 1.
Friedrich RE, Giese M, Stelljes C, Froeder C, Scheuer HA. Friedrich RE, et al. Anticancer Res. 2012 May;32(5):2207-14. Anticancer Res. 2012. PMID: 22593511
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumour syndrome. NF1 is also a disorder of bone in terms of altered bone metabolism and bone dysplasia. ...However, the position of teeth showed some relevant differences in the PNF group. We …
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumour syndrome. NF1 is also a disorder of bone in te …
30 results