(Q42051018)

15 October 2017

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis (English)

1 reference

15 October 2017

0 references

4

Michael P Whyte

1 reference

15 October 2017

Edward C W Leung

1

1 reference

15 October 2017

Aizeddin A Mhanni

2

1 reference

15 October 2017

Martin Reed

3

1 reference

15 October 2017

Hal Landy

5

1 reference

15 October 2017

Cheryl R Greenberg

6

1 reference

15 October 2017

12 April 2013

1 reference

Journal of Inherited Metabolic Disorders Reports

15 October 2017

1 reference

15 October 2017

11

1 reference

15 October 2017

73-78

1 reference

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Marrow cell transplantation for infantile hypophosphatasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Enzyme-replacement therapy in life-threatening hypophosphatasia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Antenatal diagnosis of skeletal dysplasia using ultrasound.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755555

Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

17 August 2018

1 reference

12 December 2020

1 reference

12 December 2020

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken

1 reference

12 December 2020

Infantile hypophosphatasia--linkage with the RH locus

1 reference

12 December 2020

Hypophosphatasia update: recent advances in diagnosis and treatment

1 reference

12 December 2020

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

12 December 2020

A molecular-based estimation of the prevalence of hypophosphatasia in the European population

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2013_224

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

23580367

1 reference