(Q54082163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10449659%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis (English)

1 reference

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11 December 2019

1 reference

1

1 reference

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11 December 2019

author name string

L A Brueton

2

1 reference

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11 December 2019

K W Murphy

3

1 reference

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11 December 2019

V C Worthington

4

1 reference

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11 December 2019

P Bjelogrlic

5

1 reference

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11 December 2019

E J Lazda

6

1 reference

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11 December 2019

N J Sabire

7

1 reference

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11 December 2019

C A Sewry

8

1 reference

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11 December 2019

publication date

1 September 1999

1 reference

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American Journal of Medical Genetics Part A

11 December 2019

published in

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11 December 2019

volume

86

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11 December 2019

issue

2

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11 December 2019

page(s)

187-193

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Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

11 December 2019

cites work

1 reference

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Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome

21 January 2018

1 reference

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An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

21 January 2018

1 reference

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A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990910%2986%3A2%3C187%3A%3AAID-AJMG20%3E3.0.CO%3B2-7

Limb pterygium syndromes: a review and report of eleven patients.

21 January 2018

1 reference

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Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS).

21 January 2018

1 reference

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Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases.

21 January 2018

1 reference

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Lethal multiple pterygium syndrome: report of a case with neurological anomalies

21 January 2018

1 reference

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Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990910%2986%3A2%3C187%3A%3AAID-AJMG20%3E3.0.CO%3B2-7

Glycogen branching enzyme. Preparation and properties of α-1,4-glucan-α-1,4-glucan 6-glycosyltransferase and its action on the characteristic polysaccharide of the liver of children with type IV glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990910%2986%3A2%3C187%3A%3AAID-AJMG20%3E3.0.CO%3B2-7

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990910%2986%3A2%3C187%3A%3AAID-AJMG20%3E3.0.CO%3B2-7

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990910%2986%3A2%3C187%3A%3AAID-AJMG20%3E3.0.CO%3B2-7

10.1002/(SICI)1096-8628(19990910)86:2<187::AID-AJMG20>3.0.CO;2-7

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10449659%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference