Severe infantile hypotonia with ethylmalonic aciduria: case report. [electronic resource]
Producer: 20080728Description: 703-5 p. digitalISSN:- 0883-0738
- Alleles
- Butyryl-CoA Dehydrogenase -- deficiency
- DNA Mutational Analysis
- Developmental Disabilities -- diagnosis
- Diagnosis, Differential
- Female
- Genotype
- Humans
- Infant
- Lipid Metabolism, Inborn Errors -- diagnosis
- Malonates -- urine
- Muscle Hypotonia -- diagnosis
- Muscle Weakness -- diagnosis
- Neurologic Examination
- Phenotype
- Polymorphism, Genetic -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
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