Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.
Mol Genet Metab
; 118(1): 55-9, 2016 May.
Article
en En
| MEDLINE
| ID: mdl-26992326
ABSTRACT
Enzyme replacement therapy is standard of care for patients with Gaucher disease, as it significantly improves skeletal, visceral, and hematological symptoms. Few pathological studies have documented the extent of pathological findings in treated patients. Autopsy findings in five treated patients, who ultimately developed parkinsonism, ranged from the complete absence of Gaucher pathology to extensive involvement of multiple tissues, without correlation to age, genotype, spleen status, or dose/duration of therapy. Additional autopsies may elucidate modifiers and biomarkers contributing to disease burden and response to therapy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Parkinsonianos
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Terapia de Reemplazo Enzimático
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Enfermedad de Gaucher
Tipo de estudio:
Diagnostic_studies
Límite:
Aged
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2016
Tipo del documento:
Article
País de afiliación:
Estados Unidos