Perinatal-lethal Gaucher disease (Q73602160)

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5 November 2019

title

Perinatal-lethal Gaucher disease (English)

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5 November 2019

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Mignot C

1

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5 November 2019

Gelot A

2

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5 November 2019

Bessières B

3

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5 November 2019

Daffos F

4

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Voyer M

5

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5 November 2019

Menez F

6

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5 November 2019

Fallet Bianco C

7

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5 November 2019

Odent S

8

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5 November 2019

Le Duff D

9

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Loget P

10

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5 November 2019

Fargier P

11

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5 November 2019

Costil J

12

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5 November 2019

Josset P

13

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5 November 2019

Roume J

14

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5 November 2019

Vanier MT

15

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5 November 2019

Maire I

16

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Billette de Villemeur T

17

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publication date

1 July 2003

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American Journal of Medical Genetics

5 November 2019

published in

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volume

120A

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5 November 2019

page(s)

338-344

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issue

3

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An autopsy case of fetal Gaucher disease.

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Congenital ascites as a presenting sign of lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Hydrops fetalis due to infantile Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Prenatal diagnosis of lysosomal storage diseases using fetal blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Gaucher disease associated with congenital ichthyosis in the neonate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Intrauterine brain damage in nonimmune hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Collodion babies with Gaucher's disease--a further case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Collodion babies with Gaucher's disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Hydrops revisited: literature review of 1,414 cases published in the 1980s

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Type 2 Gaucher disease: the collodion baby phenotype revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20117

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12838552%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference