[Two sisters with mannosidosis: clinical manifestations and pathologic findings of the skeletal muscle]. 1986

H Kawai, and Y Nishida, and H Nishino, and T Inui, and S Saito, and E Takeda, and M Miyao, and K Takeda, and K Yoneda, and K Adachi

UI MeSH Term Description Entries
D008363 alpha-Mannosidosis An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. Mannosidosis, alpha B, Lysosomal,Alpha-D-Mannosidosis,Alpha-Mannosidase B Deficiency,Alpha-Mannosidosis, Type I,Lysosomal Alpha B Mannosidosis,Lysosomal alpha-D-Mannosidase Deficiency,Mannosidosis, alpha B Lysosomal,alpha Mannosidase B Deficiency,alpha-Mannosidase Deficiency,Deficiencies, Lysosomal alpha-D-Mannosidase,Deficiencies, alpha-Mannosidase,Deficiency, Lysosomal alpha-D-Mannosidase,Deficiency, alpha-Mannosidase,Lysosomal alpha D Mannosidase Deficiency,Lysosomal alpha-D-Mannosidase Deficiencies,alpha Mannosidase Deficiency,alpha Mannosidosis,alpha-D-Mannosidase Deficiencies, Lysosomal,alpha-D-Mannosidase Deficiency, Lysosomal,alpha-Mannosidase Deficiencies,alpha-Mannosidoses
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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