(Q43120980)

14 November 2017

Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases (English)

1 reference

perinatal lethal hypophosphatasia

14 November 2017

0 references

1 reference

inferred from title

author name string

Akari Nakamura-Utsunomiya

1

1 reference

14 November 2017

Satoshi Okada

2

1 reference

14 November 2017

Keiichi Hara

3

1 reference

14 November 2017

Shinichiro Miyagawa

4

1 reference

14 November 2017

Kanae Takeda

5

1 reference

14 November 2017

Rie Fukuhara

6

1 reference

14 November 2017

Yusei Nakata

7

1 reference

14 November 2017

Michiko Hayashidani

8

1 reference

14 November 2017

Kanako Tachikawa

9

1 reference

14 November 2017

Toshimi Michigami

10

1 reference

14 November 2017

Keiichi Ozono

11

1 reference

14 November 2017

Masao Kobayashi

12

1 reference

14 November 2017

1 January 2010

1 reference

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

14 November 2017

1 reference

14 November 2017

19

1 reference

14 November 2017

1

1 reference

14 November 2017

7-13

1 reference

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Marrow cell transplantation for infantile hypophosphatasia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Hypophosphatasia. Review of 24 cases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687616

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

15 August 2018

1 reference

12 December 2020

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

12 December 2020

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

1 reference

12 December 2020

Specific ultrasonographic features of perinatal lethal hypophosphatasia

1 reference

12 December 2020

Identifiers

DOI

10.1297/CPE.19.7

1 reference

14 November 2017

1 reference

14 November 2017

PubMed publication ID

23926372

1 reference