A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
Author:
Funder
Metakids
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference30 articles.
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3. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts;Almeida;Mol. Genet. Metab.,2006
4. Low creatinine: the diagnostic clue for a treatable neurologic disorder;Bodamer;Neurology,2009
5. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation;Caldeira Araújo;Am. J. Med. Genet. A,2005
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3. Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening;Pediatrics;2023-07-19
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