Abstract
Nonketotic hyperglycinemia is an autosomal-recessive disorder that usually presents during the neonatal period and, in its classic or typical form, is characterized by poor muscle tone, feeding difficulties, intractable seizures, and death due to respiratory insufficiency.1,2 Phenotypically, the disorder can be quite heterogeneous; atypical presentations include mild mental retardation and expressive language difficulties as the sole features.3-8 In many ways, nonketotic hyperglycinemia serves as a paradigm for the application of basic neuroscience to the understanding and treatment of a developmental disorder.
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© 1990 Plenum Publishing Corporation
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Deutsch, S.I., Deutsch, L.H., Weizman, R. (1990). Nonketotic Hyperglycinemia. In: Deutsch, S.I., Weizman, A., Weizman, R. (eds) Application of Basic Neuroscience to Child Psychiatry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0525-5_11
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DOI: https://doi.org/10.1007/978-1-4613-0525-5_11
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