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BETA-MANNOSIDOSIS
Descriptors Found:
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DeCS
Descriptor
English
:
beta-Mannosidosis
Descriptor
Spanish
:
beta-Manosidosis
Descriptor
Portuguese
:
beta-Manosidose
Synonyms
English
:
Mannosidosis, beta A, Lysosomal
Tree Number:
C16.320.565.202.607.750
C16.320.565.595.577.750
C18.452.648.202.607.750
C18.452.648.595.577.750
Definition
English
:
An inborn error of
metabolism
marked by a defect in the lysosomal isoform of
BETA-MANNOSIDASE
that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human
disease
occurs through autosomal recessive inheritance and manifests itself with variety of
symptoms
that depend upon the type of gene
mutation.
See Related
English
:
beta-Mannosidase
History Note
English
:
2004
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
38054
Unique Identifier:
D044905
Occurrence in VHL
:
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