×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Hypophosphatasia.
28939177
2018
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Genetic analysis of adults heterozygous for ALPL mutations.
29236161
2018
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
28401263
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
28127875
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.
28436937
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
28506345
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
28663156
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
28401263
2017
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
26783040
2016
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.
26459154
2016
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
27179278
2016
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
27312557
2016
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment.
25736332
2015
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
25731960
2015
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
26432670
2015
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
25731960
2015
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
24100244
2014
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
24569605
2014
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Benign prenatal hypophosphatasia: a treatable disease not to be missed.
24145968
2014
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
24276437
2014
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
24276437
2014
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
23454488
2013
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
CausalMutation
CLINVAR
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
23688511
2013
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.
23580367
2013
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
GeneticVariation
CLINVAR
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
23509830
2012