[Mannosidosis. Clinical and enzymatic studies in a family].
Pascual-Castroviejo
I
I
Chabas
A
A
de la Cruz
M
M
Verdú
A
A
Roche
C
C
D002648:Child; D002675:Child, Preschool; D006312:Hearing Loss, Bilateral / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008361:Mannosidases / Q000172:deficiency*; D009122:Muscle Hypertonia / Q000209:etiology; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
D008361:Mannosidases; D043323:alpha-Mannosidase
Manosidosis. Estudios clínicos y enzimáticos en una familia.