Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype

Journal of Inherited Metabolic Disease

Volumn 27, Issue 5, 2004, Pages 687-690

  Hanna, R ^a   McDonald, M T ^a   Sullivan, J A ^a   Mackey, J F ^a   Krishnamurthy, V ^a   Kishnani, P S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; IMIGLUCERASE;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FAMILY HISTORY; FEMALE; FLUOROSCOPY; GAUCHER DISEASE; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MEDICAL CARE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OROPHARYNX; PHENOTYPIC VARIATION; VIDEORECORDING;

AGE OF ONSET; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; FLUOROSCOPY; GAUCHER DISEASE; GENES, RECESSIVE; HUMANS; MALE; PHENOTYPE; PROGNOSIS;

EID: 4644307561     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000043027.80328.75     Document Type: Article

References (6)

1. Altarescu G, Hill S, Wiggs E, et al (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 138(4): 539-547.
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3. Jeyakumar M, Norflus F, Tifft CJ, et al (2001) Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 97(1): 327-329.
4. Koprivica V, Stone DL, Park JK, et al (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66(6): 1777-1786.
5. Platt FM, Jeyakumar M, Andersson U, et al (2001) Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis 24(2): 275-290.
6. Vellodi A, Bembi B, de Villemeur TB, et al (2001) Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 24(3): 319-327.