(Q36938338)

17 August 2017

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

1 reference

17 August 2017

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7

Michael P Whyte

1 reference

17 August 2017

6

Steven Mumm

1 reference

17 August 2017

David A Stevenson

1

1 reference

17 August 2017

John C Carey

2

1 reference

17 August 2017

Stephen P Coburn

3

1 reference

17 August 2017

Karen L Ericson

4

1 reference

17 August 2017

Janice L B Byrne

5

1 reference

17 August 2017

language of work or name

English

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publication date

17 June 2008

1 reference

The Journal of Clinical Endocrinology and Metabolism

17 August 2017

1 reference

17 August 2017

93

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17 August 2017

9

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17 August 2017

3443-3448

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Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Marrow cell transplantation for infantile hypophosphatasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Correlations of genotype and phenotype in hypophosphatasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

A versatile cation-exchange procedure of measuring the seven major forms of vitamin B6 in biological samples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Phenotypically dissimilar hypophosphatasia in two sibships

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Use of chlorite to improve HPLC detection of pyridoxal 5'-phosphate

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567856

Early prenatal diagnosis of congenital hypophosphatasia: case report

4 September 2018

1 reference

12 December 2020

Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras

1 reference

12 December 2020

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

12 December 2020

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

1 reference

12 December 2020

The excretion of phosphoethanolamine and hypophosphatasia

1 reference

12 December 2020

Mild hypophosphatasia in utero: bent bones in a family with dental disease

1 reference

12 December 2020

Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

1 reference

12 December 2020

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

1 reference

12 December 2020

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

1 reference

12 December 2020

1 reference

12 December 2020

Pulmonary hypoplasia in neonatal hypophosphatasia

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2008-0318

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18559907

1 reference