Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. [electronic resource]
Producer: 20060425Description: 411-5 p. digitalISSN:- 0364-5134
- Aldehydes -- cerebrospinal fluid
- Amino Acid Oxidoreductases -- metabolism
- Carrier Proteins -- metabolism
- DNA Mutational Analysis -- methods
- Epoxy Compounds -- cerebrospinal fluid
- Excitatory Amino Acid Antagonists -- therapeutic use
- Female
- Follow-Up Studies
- Glycine Dehydrogenase -- genetics
- Humans
- Hyperglycinemia, Nonketotic -- cerebrospinal fluid
- Infant, Newborn
- Ketamine -- therapeutic use
- Multienzyme Complexes -- metabolism
- Mutation
- Prospective Studies
- Sodium Benzoate -- therapeutic use
- Transferases -- metabolism
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Publication Type: Case Reports; Journal Article
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