Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants [PDF]
Lothar Seefried +4 more
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Journal of Rare DiseasesHypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le +3 more
doaj +1 more source
Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study [PDF]
Tatiane Vilaça +6 more
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Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders [PDF]
, 2018 Kathryn Dahir +10 more
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SUN-733 Recurrent metatarsal, scapular and acromial fractures during Denosumab therapy in Adult-onset Hypophosphatasia with a pathogenic variant of the ALPL gene and a variant of uncertain significance of the ATRIP Gene [PDF]
Maham Shahid +3 more
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Correction: Alpl prevents bone ageing sensitivity by specifically regulating senescence and differentiation in mesenchymal stem cells [PDF]
, 2020 Wenjia Liu +9 more
openalex +1 more source
Estudio comparativo de características metabólicas del M. gluteus medius en equinos y bovinos
Revista Científica, 2010 Se hicieron comparaciones de las características metabólicas del M. gluteus medius de doce (12) caballos pura sangre y de cuarenta (40) vacas mestizas.
Noelina Hernández +4 more
doaj
Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation [PDF]
, 2018 Fanxin Long +5 more
core +2 more sources
Downregulation of MicroRNA-206 Alleviates the Sublethal Oxidative Stress-Induced Premature Senescence and Dysfunction in Mesenchymal Stem Cells via Targeting Alpl [PDF]
, 2020 Xuan Liu +7 more
openalex +1 more source