Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3 - 29/08/11
Doi : 10.1067/S0022-3476(03)00302-0
Ozlem Goker-Alpan, MD, Raphael Schiffmann, MD, Joseph K Park, BA, Barbara K Stubblefield, BS, Nahid Tayebi, PhD, Ellen Sidransky, MD ⁎ 
From the Section on Molecular Neurogenetics, NIMH and Medical Genetics Branch, NHGRI, and the Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, Maryland, USA
Reprint requests: Ellen Sidransky, MD, Section on Molecular Neurogenetics, 49 Convent Dr, MSC4405, 49/B1EE16, Bethesda, MD 20892-4405.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Abbreviations : ERT, GD
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Vol 143 - N° 2
P. 273-276 - août 2003 Retour au numéro
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