(Q43986118)

28 November 2017

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

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28 November 2017

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Litmanovitz

1

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28 November 2017

O Reish

2

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28 November 2017

T Dolfin

3

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28 November 2017

S Arnon

4

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28 November 2017

R Regev

5

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28 November 2017

G Grinshpan

6

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28 November 2017

M Yamazaki

7

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28 November 2017

K Ozono

8

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28 November 2017

1 February 2002

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Journal of Inherited Metabolic Disease

28 November 2017

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28 November 2017

25

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28 November 2017

1

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28 November 2017

35-40

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https://scigraph.springernature.com/pub.10.1023/a:1015121414782

28 November 2017

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cites work

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

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12 December 2020

Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity

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12 December 2020

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification

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12 December 2020

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

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12 December 2020

Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia

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12 December 2020

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia

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12 December 2020

Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia.

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12 December 2020

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

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12 December 2020

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

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12 December 2020

Correlations of genotype and phenotype in hypophosphatasia

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12 December 2020

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12 December 2020

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

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12 December 2020

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase

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12 December 2020

Identifiers

DOI

10.1023/A:1015121414782

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Dimensions Publication ID

28 November 2017

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