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Descriptor English:   Lysosomal Storage Diseases 
Descriptor Spanish:   Enfermedades por Almacenamiento Lisosomal 
Descriptor Portuguese:   Doenças por Armazenamento dos Lisossomos 
Synonyms English:   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:   C16.320.565.595
Definition English:   Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. 
Indexing Annotation English:   an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
History Note English:   92 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30000 
Unique Identifier:   D016464 

Occurrence in VHL: