Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
Publication
, Journal Article
Hanna, R; McDonald, MT; Sullivan, JA; Mackey, JF; Krishnamurthy, V; Kishnani, PS
Published in: J Inherit Metab Dis
2004
Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.
Duke Scholars
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
2004
Volume
27
Issue
5
Start / End Page
687 / 690
Location
United States
Related Subject Headings
- Prognosis
- Phenotype
- Male
- Humans
- Genetics & Heredity
- Genes, Recessive
- Gaucher Disease
- Fluoroscopy
- Female
- Disease Progression
Citation
APA
Chicago
ICMJE
MLA
NLM
Hanna, R., McDonald, M. T., Sullivan, J. A., Mackey, J. F., Krishnamurthy, V., & Kishnani, P. S. (2004). Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. J Inherit Metab Dis, 27(5), 687–690. https://doi.org/10.1023/b:boli.0000043027.80328.75
Hanna, R., M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy, and P. S. Kishnani. “Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.” J Inherit Metab Dis 27, no. 5 (2004): 687–90. https://doi.org/10.1023/b:boli.0000043027.80328.75.
Hanna R, McDonald MT, Sullivan JA, Mackey JF, Krishnamurthy V, Kishnani PS. Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. J Inherit Metab Dis. 2004;27(5):687–90.
Hanna, R., et al. “Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.” J Inherit Metab Dis, vol. 27, no. 5, 2004, pp. 687–90. Pubmed, doi:10.1023/b:boli.0000043027.80328.75.
Hanna R, McDonald MT, Sullivan JA, Mackey JF, Krishnamurthy V, Kishnani PS. Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. J Inherit Metab Dis. 2004;27(5):687–690.
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
2004
Volume
27
Issue
5
Start / End Page
687 / 690
Location
United States
Related Subject Headings
- Prognosis
- Phenotype
- Male
- Humans
- Genetics & Heredity
- Genes, Recessive
- Gaucher Disease
- Fluoroscopy
- Female
- Disease Progression