muramidase and Intellectual-Disability

muramidase has been researched along with Intellectual-Disability* in 1 studies

Other Studies

1 other study(ies) available for muramidase and Intellectual-Disability

Article	Year
Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis? Journal of neurology, 1983, Volume: 229, Issue:1 An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies. Topics: Adolescent; Diagnosis, Differential; Humans; Intellectual Disability; Leukocytes; Male; Metabolism, Inborn Errors; Mucopolysaccharidoses; Muramidase; Muscular Atrophy; Reflex, Abnormal; Syndrome	1983

Article

Year

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

Journal of neurology, 1983, Volume: 229, Issue:1

An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.

Topics: Adolescent; Diagnosis, Differential; Humans; Intellectual Disability; Leukocytes; Male; Metabolism, Inborn Errors; Mucopolysaccharidoses; Muramidase; Muscular Atrophy; Reflex, Abnormal; Syndrome

1983