(Q83393080)

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Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation

scientific article published on 10 February 2011

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

hypophosphatasia

1 reference

based on heuristic

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author name string

Keiichi Ozono

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Toshimi Michigami

2

1 reference

Europe PubMed Central

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22 January 2020

publication date

10 February 2011

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Europe PubMed Central

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22 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

56

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22 January 2020

3

1 reference

Europe PubMed Central

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22 January 2020

174-176

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

https://scigraph.springernature.com/pub.10.1038/jhg.2011.6

0 references

Physiological role of alkaline phosphatase explored in hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult hypophosphatasia treated with teriparatide

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Marrow cell transplantation for infantile hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme replacement therapy for murine hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2011.6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21307860%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

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