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PMM2-CDG and sensorineural hearing loss.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Sep; Vol. 40 (5), pp. 629-630. Date of Electronic Publication: 2017 Jul 31. - Publication Year :
- 2017
- Subjects :
- Anthropometry
Audiometry
Brain Stem
Child, Preschool
Congenital Disorders of Glycosylation complications
Hearing Loss, Sensorineural complications
Humans
Male
Phosphotransferases (Phosphomutases) genetics
Congenital Disorders of Glycosylation genetics
Evoked Potentials, Auditory
Hearing Loss, Sensorineural genetics
Phosphotransferases (Phosphomutases) deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2665
- Volume :
- 40
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Report
- Accession number :
- 28762107
- Full Text :
- https://doi.org/10.1007/s10545-017-0073-z