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Descriptor English: Lysosomal Storage Diseases
Descriptor Spanish: Enfermedades por Almacenamiento Lisosomal
Descriptor enfermedades por almacenamiento lisosómico
Entry term(s) enfermedades de almacenamiento lisosómico
trastornos enzimáticos lisosómicos
Scope note: Alteraciones congénitas del metabolismo que se caracterizan por defectos en hidrolasas lisosómicas específicas y que producen acumulación intracelular de sustratos no metabolizados.
Descriptor Portuguese: Doenças por Armazenamento dos Lisossomos
Descriptor French: Maladies lysosomiales
Entry term(s): Disease, Lysosomal Storage
Diseases, Lysosomal Storage
Disorder, Lysosomal Enzyme
Disorders, Lysosomal Enzyme
Enzyme Disorder, Lysosomal
Enzyme Disorders, Lysosomal
Lysosomal Enzyme Disorder
Lysosomal Enzyme Disorders
Lysosomal Storage Disease
Tree number(s): C16.320.565.595
C18.452.648.595
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D016464
Scope note: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Annotation: an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Metabolism, Inborn Errors (1972-1991)
Public MeSH Note: 92
History Note: 92
Entry Version: LYSOSOMAL STORAGE DIS
DeCS ID: 30000
Unique ID: D016464
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1992/01/01
Date of Entry: 1991/01/02
Revision Date: 2006/07/05
Lysosomal Storage Diseases - Preferred
Concept UI M0025150
Scope note Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Preferred term Lysosomal Storage Diseases
Entry term(s) Disease, Lysosomal Storage
Diseases, Lysosomal Storage
Disorder, Lysosomal Enzyme
Disorders, Lysosomal Enzyme
Enzyme Disorder, Lysosomal
Enzyme Disorders, Lysosomal
Lysosomal Enzyme Disorder
Lysosomal Enzyme Disorders
Lysosomal Storage Disease



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