The importance of correct phenotyping in Gaucher disease [4]

Journal of Child Neurology

Volumn 22, Issue 8, 2007, Pages 1056-1057

  Harris, Christopher M ^a   Campbell, Pauline ^a  

^a UNIVERSITY OF PLYMOUTH   (United Kingdom)

Author keywords

Gaucher disease; Phenotyping

Indexed keywords

CONDUCTION DEAFNESS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; EVOKED BRAIN STEM AUDITORY RESPONSE; EYE MOVEMENT DISORDER; GAUCHER DISEASE; GENE MUTATION; GENETIC IDENTIFICATION; HEAD MOVEMENT; HOMOZYGOSITY; HUMAN; LETTER; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT;

DIAGNOSIS, DIFFERENTIAL; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEARING LOSS; HUMANS; NERVE DEGENERATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS;

EID: 34548175270     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807305783     Document Type: Letter

References (8)

1. Perretti A., Parenti G., Balbi P., et al. Study of multimodal evoked potentials in patients with type I Gaucher disease. J Child Neurol. 2005;20:124-128.
2. Campbell PE, Harris CM, Vellodi A. Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology. 2004;63:385-387.
3. Campbell PE, Harris CM, Sirimanna T., Vellodi A. A model of neuronopathic Gaucher disease. J Inherited Metab Dis. 2003;26:629-639.
4. Bamiou D., Campbell P., Liasis A., et al. Audiometric abnormalities in children with Gaucher disease type 3. Neuropediatrics. 2001;32:136-141.
5. Vellodi A., Bembi B., de Villemeur TB, et al. Management of neuronopathic Gaucher disease: A European consensus. J Inherited Metab Dis. 2001;24:319-327.
6. Futerman AH, Sussman JL, Horowitz M., et al. New directions in the treatment of Gaucher disease. Trends Pharmacol Sci. 2004;25:147-151.
7. Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics. 1999;30:289-293.
8. Cassidy L., Taylor D., Harris CM Abnormal supranuclear eye movements in the child: A practical guide to examination and interpretation. Survey Ophthalmol. 2000;44:479-506.