(Q86743649)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

E Sidransky

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

E I Ginns

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

1 March 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

Journal of Genetic Counseling

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

13-22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

The human glucocerebrosidase gene and pseudogene: structure and evolution

29 February 2020

cites work

1 reference

12 December 2020

Clinical heterogeneity among patients with Gaucher's disease.

1 reference

12 December 2020

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

1 reference

12 December 2020

Gaucher disease: new molecular approaches to diagnosis and treatment

1 reference

12 December 2020

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

1 reference

12 December 2020

Sequence of two alleles responsible for Gaucher disease

1 reference

12 December 2020

Bone-marrow transplantation in severe Gaucher's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

1 reference

12 December 2020

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

1 reference

12 December 2020

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

1 reference

12 December 2020

A less costly regimen of alglucerase to treat Gaucher's disease

1 reference

12 December 2020

DNA mutation analysis of Gaucher patients

1 reference

12 December 2020

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

12 December 2020

Creating the costliest orphan. The Orphan Drug Act in the development of Ceredase

1 reference

12 December 2020

Expression of human glucocerebrosidase in murine long-term bone marrow cultures after retroviral vector-mediated transfer.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gaucher's disease: advances and challenges

1 reference

12 December 2020

High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells

1 reference

12 December 2020

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients

1 reference

12 December 2020

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

1 reference

12 December 2020

Mutation analysis in Gaucher disease

1 reference

12 December 2020

The molecular biology of Gaucher disease and the potential for gene therapy

1 reference

12 December 2020

Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews

1 reference

12 December 2020

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

1 reference

12 December 2020

Enzyme Augmentation in Moderate to Life-Threatening Gaucher Disease

1 reference

12 December 2020

A Case of Nonneurologic Gaucherʼs Disease that Biochemically Resembles the Neurologic Types

1 reference

12 December 2020

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

1 reference

12 December 2020

Gaudier patients with oculomotor abnormalities do not have a unique genotype

1 reference

12 December 2020

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans

1 reference

12 December 2020

Alglucerase. A review of its therapeutic use in Gaucher's disease

1 reference

12 December 2020

Prevalent and rare mutations among Gaucher patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

1 reference

12 December 2020

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01414603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24233795%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference