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DeCS
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Descriptor Inglés:
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beta-Mannosidosis
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Descriptor Español:
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beta-Manosidosis
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Descriptor Portugués:
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beta-Manosidose
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Sinónimos Inglés:
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Lysosomal beta A Mannosidosis
Lysosomal beta Mannosidase Deficiency
Lysosomal beta-Mannosidase Deficiencies
Lysosomal beta-Mannosidase Deficiency
Mannosidosis, beta A, Lysosomal
beta Mannosidase Deficiency
beta Mannosidosis
beta-Mannosidase Deficiencies
beta-Mannosidase Deficiency
beta-Mannosidoses
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Categoría:
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C16.320.565.202.607.750
C16.320.565.595.577.750
C18.452.648.202.607.750
C18.452.648.595.577.750
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Definición Inglés:
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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 in the form of a variety of symptoms that depend upon the type of gene mutation. |
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Relacionados Inglés:
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beta-Mannosidase
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Nota Histórica Inglés:
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2004
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Calificadores Permitidos Inglés:
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Número del Registro:
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38054
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Identificador Único:
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D044905
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Ocurrencia en la BVS:
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Similar:
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DeCS
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