(Q35201322)

7 August 2017

title

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening (English)

1 reference

infantile hypophosphatasia

7 August 2017

0 references

1 reference

Chodirker BN

1

1 reference

7 August 2017

Evans JA

2

1 reference

7 August 2017

Seargeant LE

3

1 reference

7 August 2017

Cheang MS

4

1 reference

7 August 2017

Greenberg CR

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 February 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

46

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

280-285

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

7 August 2017

1 reference

Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Inheritance of hypophosphatasia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Hypophosphatasia: a case report and literature review

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Antenatal diagnosis of skeletal dysplasia using ultrasound.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684979

Phosphorylethanolamine and hypophosphatasia

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2301398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/2301398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infantile hypophosphatasia--linkage with the RH locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2301398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1684979

1 reference

7 August 2017

1 reference