Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. [electronic resource]
Producer: 20011204Description: 127-31 p. digitalISSN:- 1090-3798
- Acidosis, Lactic -- diagnosis
- Adolescent
- Adult
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Genetic Carrier Screening
- Glycosylation
- Humans
- Leigh Disease -- diagnosis
- Male
- Mitochondrial Encephalomyopathies -- diagnosis
- Phosphotransferases (Phosphomutases) -- deficiency
- Retinitis Pigmentosa -- diagnosis
- Spinocerebellar Degenerations -- diagnosis
- Transferrin -- analogs & derivatives
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.