Associated Papers
ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.
Marini F et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.
Guarnieri V et al.
Journal of Endocrinological Investigation, 2022
Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
Masi L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
Kato M et al.
Journal of Bone and Mineral Metabolism, 2021
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato M et al.
Journal of Bone and Mineral Metabolism, 2020
Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures.
Funck-Brentano T et al.
Joint Bone Spine, 2017
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
27433940 (PubMed )
Supplement: pone.0159355.s013.xlsx › foetal_gDNA
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
Girschick HJ et al.
Bmc Pediatrics, 2007
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