In:
Journal of Child Neurology, SAGE Publications, Vol. 22, No. 6 ( 2007-06), p. 773-774
Abstract:
Guanidinoacetate methyltransferase deficiency typically presents with muscular hypotonia, global developmental delay, extrapyramidal signs, and seizures during infancy and childhood. The authors report a 5-year-old child with guanidinoacetate methyltransferase deficiency who presented with severe speech delay, emphasizing the importance of an early screening for disorders of creatine synthesis and transport in every infant or child with isolated speech delay of unknown cause.
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/0883073807304015
Language:
English
Publisher:
SAGE Publications
Publication Date:
2007
detail.hit.zdb_id:
2068710-2
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