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
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
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
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
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
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
Brun-Heath I et al.
Clinical Genetics, 2008
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
Girschick HJ et al.
Bmc Pediatrics, 2007
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000