Associated Papers
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.
Yue H et al.
Oral Diseases, 2024
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Amri Y et al.
Molecular Genetics and Genomics : Mgg, 2024
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
Hepp N et al.
Bone Reports, 2021
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
Tornero C et al.
Orphanet Journal of Rare Diseases, 2020
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L et al.
Bone, 2013
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
Sabrautzki S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
Satou Y et al.
Biochimica Et Biophysica Acta, 2012
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.
Schalin-Jäntti C et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.
Gagnon C et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
Taillandier A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
Zweier C et al.
Journal of Medical Genetics, 2003
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
A molecular approach to dominance in hypophosphatasia.
Lia-Baldini AS et al.
Human Genetics, 2001
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Taillandier A et al.
Human Mutation, 2000
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000