Neuronopathic forms of Gaucher's disease (Q41719191)

8 October 2017

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title

Neuronopathic forms of Gaucher's disease (English)

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8 October 2017

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Erikson A

1

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8 October 2017

Bembi B

series ordinal

2

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8 October 2017

Schiffmann R

series ordinal

3

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8 October 2017

publication date

1 December 1997

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Best Practice and Research: Clinical Haematology

8 October 2017

published in

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8 October 2017

volume

10

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8 October 2017

issue

4

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8 October 2017

page(s)

711-723

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

8 October 2017

cites work

1 reference

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7 January 2021

Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease

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7 January 2021

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

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7 January 2021

Enzyme replacement treatment in type 1 and type 3 Gaucher's disease

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7 January 2021

Gaucher disease, a paradigm for single gene defects

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7 January 2021

Pathological findings in gaucher disease type 2 patients following enzyme therapy*1

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7 January 2021

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

1 reference

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7 January 2021

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease

1 reference

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7 January 2021

Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease

1 reference

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7 January 2021

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies

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7 January 2021

Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings

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7 January 2021

Towards therapy of Gaucher's disease by gene transfer into hematopoietic cells

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7 January 2021

Gaucher disease--Norrbottnian type. I. General clinical description

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7 January 2021

Retroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease. A phase I study

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7 January 2021

Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease

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7 January 2021

Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome

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7 January 2021

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

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7 January 2021

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

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7 January 2021

Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases

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7 January 2021

Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy

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7 January 2021

Genotype/phenotype correlations in Gaucher's disease

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7 January 2021

Occurrence of Parkinson's syndrome in type I Gaucher disease

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7 January 2021

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

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7 January 2021

The glucocerebrosidase D409H mutation in Gaucher disease

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7 January 2021

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

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7 January 2021

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

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7 January 2021

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

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7 January 2021

The role of splenectomy in Gaucher's disease

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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

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7 January 2021

Central nervous system involvement in adult-onset Gaucher's disease

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7 January 2021

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

1 reference

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7 January 2021

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980035-2

7 January 2021

Outcome of partial splenectomy for type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980035-2

7 January 2021

10.1016/S0950-3536(97)80035-2

Identifiers

DOI

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8 October 2017

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