Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family (Q73356675)

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3 November 2019

title

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

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3 November 2019

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B Gehring

1

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3 November 2019

E Mornet

2

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3 November 2019

H Plath

3

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3 November 2019

M Hansmann

4

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3 November 2019

P Bartmann

5

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3 November 2019

R E Brenner

6

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3 November 2019

publication date

1 October 1999

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3 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10636450 AND SRC:MED&resulttype=core&format=json

3 November 2019

volume

56

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3 November 2019

issue

4

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3 November 2019

page(s)

313-317

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

3 November 2019

cites work

1 reference

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7 January 2021

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862 5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief n

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

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

1 reference

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7 January 2021

Relationship between Serum Alkaline Phosphatase and Pyridoxal-5′-Phosphate Levels in Hypophosphatasia

1 reference

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7 January 2021

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

1 reference

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7 January 2021

Intracellular Retention and Degradation of Tissue-Nonspecific Alkaline Phosphatase with a Gly317→Asp Substitution Associated with Lethal Hypophosphatasia

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

Correlations of genotype and phenotype in hypophosphatasia

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560409.X

7 January 2021

10.1034/J.1399-0004.1999.560409.X

Identifiers

DOI

1 reference

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3 November 2019

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