|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
|
31707452 |
2020 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene.
|
31600233 |
2019 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The ALPL gene is linked to hypophosphatasia, a rare genetic disease.
|
30979497 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene.
|
31000369 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
|
31760938 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an inheritable disease affecting both skeletal systems and extra-skeletal organs due to mutations of the gene ALPL, which encodes tissue-nonspecific alkaline phosphatase.
|
31178256 |
2019 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase (TNAP) activity.
|
30979366 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
|
31146036 |
2019 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP).
|
31641588 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process.
|
31267001 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism due to loss of function mutations in the tissue non-specific alkaline phosphatase (ALPL) gene causing reductions in the activity of the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP).
|
30915507 |
2019 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP).
|
30215116 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In humans, recessive and dominant ALPL mutations cause hypophosphatasia (HPP), a metabolic bone disease with highly heterogeneous clinical manifestations, ranging from lethal perinatal hypomineralization to a relatively mild dental disease.
|
30700765 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Other very rare causes include hypophosphatasia due to ALPL mutations, which is characterized by a low alkaline phosphatase level; and renal phosphate wasting due to an NPT2A mutation, in which serum phosphate levels are low.
|
30300686 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is the inborn-error-of-metabolism characterized enzymatically by insufficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) and caused by either mono- or bi-allelic loss-of-function mutation(s) of the gene ALPL that encodes this cell surface phosphomonoester phosphohydrolase.
|
30825650 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inherited disorder characterised by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL.
|
31793067 |
2019 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase.
|
30508915 |
2018 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene.
|
29160033 |
2018 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the <i>ALPL</i> (in human) or <i>Akp2</i> (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme.
|
29551976 |
2018 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP).
|
29360619 |
2018 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We successfully generated the first large animal model of a rare human bone disease, hypophosphatasia (HPP) using CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep.
|
30446691 |
2018 |
|
Hypophosphatasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations of the ALPL gene.
|
30203264 |
2018 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene.
|
29236161 |
2018 |
|
Hypophosphatasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme.
|
30012160 |
2018 |
|
Hypophosphatasia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
|
30293248 |
2018 |