(Q28251413)

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Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies

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title

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies (English)

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main subject

Israel

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glycogen storage disease

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R Parvari

1

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K J Lei

series ordinal

2

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N Bashan

series ordinal

3

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E Hershkovitz

series ordinal

4

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S H Korman

series ordinal

5

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V Barash

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6

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T Lerman-Sagie

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7

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H Mandel

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8

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J Y Chou

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9

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S W Moses

series ordinal

10

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language of work or name

English

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publication date

31 October 1997

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published in

American Journal of Medical Genetics Part A

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volume

72

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issue

3

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page(s)

286-90

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cites work

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

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reference URL

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retrieved

21 January 2018

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

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https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Renal disease in type I glycogen storage disease

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP)

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971031%2972%3A3%3C286%3A%3AAID-AJMG6%3E3.0.CO%3B2-P

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P

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PubMed publication ID

9332655

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(Q28251413)

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies

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