Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and ocu...

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 143; no. 2; pp. 273 - 276
Main Authors Goker-Alpan, Ozlem, Schiffmann, Raphael, Park, Joseph K, Stubblefield, Barbara K, Tayebi, Nahid, Sidransky, Ellen
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.08.2003
Elsevier
Subjects
Age of Onset
Biological and medical sciences
Female
Gaucher Disease - classification
Gaucher Disease - genetics
Humans
Infant
Male
Medical sciences
Metabolic diseases
Miscellaneous
Nervous system involvement in other diseases. Miscellaneous
Neurology
Other metabolic disorders
Phenotype
GD
ERT
Human
Nervous system diseases
Metabolic diseases
Genotype
Neuropathy
Enzymopathy
Cerebral disorder
Genetic disease
Continuum
Heterogeneity
Phenotype
Gaucher disease
Central nervous system disease
Lipoidosis
Child
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Summary:Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0022-3476
1097-6833
DOI:10.1067/S0022-3476(03)00302-0