(Q73047580)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10508980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Mild autosomal dominant hypophosphatasia: in utero presentation in two families (English)

1 reference

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31 October 2019

1 reference

9

M P Whyte

1 reference

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31 October 2019

author name string

C A Moore

1

1 reference

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31 October 2019

C J Curry

2

1 reference

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31 October 2019

P S Henthorn

3

1 reference

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31 October 2019

J A Smith

4

1 reference

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31 October 2019

J C Smith

5

1 reference

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31 October 2019

P O'Lague

6

1 reference

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31 October 2019

S P Coburn

7

1 reference

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31 October 2019

D D Weaver

8

1 reference

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31 October 2019

publication date

1 October 1999

1 reference

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American Journal of Medical Genetics Part A

31 October 2019

published in

1 reference

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31 October 2019

volume

86

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31 October 2019

issue

5

1 reference

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31 October 2019

page(s)

410-415

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Prenatal detection of hypophosphatasia: Cytological and genetic considerations

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases

21 January 2018

1 reference

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Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

Prenatal diagnosis of infantile hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

Infantile hypophosphatasia: autosomal recessive transmission to two related sibships

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

Prenatal diagnosis of congenital hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C410%3A%3AAID-AJMG3%3E3.0.CO%3B2-0

10.1002/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10508980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference