Gaucher's disease: the best laid schemes of mice and men. (Q41719194)

8 October 2017

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title

Gaucher's disease: the best laid schemes of mice and men. (English)

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8 October 2017

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Sidransky E

1

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PubMed ID

9497860

8 October 2017

Ginns EI

series ordinal

2

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8 October 2017

1 December 1997

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Best Practice and Research: Clinical Haematology

8 October 2017

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8 October 2017

10

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8 October 2017

4

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8 October 2017

725-737

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Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

8 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Structure and organization of the human thrombospondin 3 gene (THBS3)

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Hematologically important mutations: Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Ocular Motor Signs in Some Metabolic Diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Prevalent and rare mutations among Gaucher patients

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Congenital ascites as a presenting sign of lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Mas37p, a novel receptor subunit for protein import into mitochondria.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Characterization by cDNA cloning of two new human protein kinases. Evidence by sequence comparison of a new family of mammalian protein kinases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Gaucher disease associated with congenital ichthyosis in the neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Structure and organization of the human metaxin gene (MTX) and pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Collodion babies with Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Niemann-Pick disease associated with nonimmune hydrops fetalis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Occurrence of Parkinson's syndrome in type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Clinical heterogeneity among patients with Gaucher's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Gaudier patients with oculomotor abnormalities do not have a unique genotype

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

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?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

The twitcher mouse: accumulation of galactosylsphingosine and pathology of the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Molecular and phenotypic variation in patients with severe Hunter syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980036-4

7 January 2021

10.1016/S0950-3536(97)80036-4

Identifiers

DOI

1 reference

8 October 2017

1 reference

PubMed ID

9497860