Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. [electronic resource]
Producer: 20090406Description: 591-6 p. digitalISSN:- 1528-3933
- Adolescent
- Age of Onset
- Anterior Eye Segment -- pathology
- Carrier Proteins -- genetics
- Child
- Child, Preschool
- Disease Progression
- Electroretinography
- Eye -- pathology
- Female
- Fundus Oculi
- Genes, Recessive
- Heterozygote
- Homocystinuria -- classification
- Humans
- Infant
- Longitudinal Studies
- Male
- Metabolism, Inborn Errors -- classification
- Methylmalonic Acid -- urine
- Mutation
- Oxidoreductases
- Phenotype
- Retina -- pathology
- Retinal Diseases -- etiology
- Visual Acuity
- Vitamin B 12 -- metabolism
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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