[Pediatric audiologic-phoniatric aspects of mannosidosis].
The diagnosis of speech and hearing disorders should include lysosomal storage disorders in the differential diagnosis. The diagnostic and therapeutic aspects are described of a child with a deficiency of alpha-D-mannosidase.
Kraft
E
E
Klinik für Kommunikationsstörungen, Johannes Gutenberg-Universität Mainz.
Zorowka
P
P
D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D002675:Child, Preschool; D005260:Female; D006310:Hearing Aids; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007805:Language Development Disorders / Q000209:etiology* / Q000235:genetics; D008361:Mannosidases / Q000172:deficiency; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000150:complications* / Q000235:genetics
D008361:Mannosidases; D043323:alpha-Mannosidase
Pädaudiologisch-phoniatrische Aspekte der Mannosidose.