Infantile hypophosphatasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
|
30979546 |
2019 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hypophosphatasia.
|
28939177 |
2018 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of adults heterozygous for ALPL mutations.
|
29236161 |
2018 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
|
28401263 |
2017 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
|
28127875 |
2017 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
|
27777120 |
2017 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.
|
28436937 |
2017 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
|
28506345 |
2017 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
|
28663156 |
2017 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
|
28401263 |
2017 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
|
26783040 |
2016 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.
|
26459154 |
2016 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
|
27179278 |
2016 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
|
27086862 |
2016 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
|
27312557 |
2016 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment.
|
25736332 |
2015 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
|
25731960 |
2015 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
|
26432670 |
2015 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
|
25731960 |
2015 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
|
24100244 |
2014 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
|
24569605 |
2014 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Benign prenatal hypophosphatasia: a treatable disease not to be missed.
|
24145968 |
2014 |
Infantile hypophosphatasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
|
24276437 |
2014 |
Infantile hypophosphatasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
|
24276437 |
2014 |
Infantile hypophosphatasia
|
1.000 |
Biomarker
|
disease |
MGD |
Tooth root dentin mineralization defects in a mouse model of hypophosphatasia.
|
22991301 |
2013 |