Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Publication
, Journal Article
El-Gharbawy, AH; Goldstein, JL; Millington, DS; Vaisnins, AE; Schlune, A; Barshop, BA; Schulze, A; Koeberl, DD; Young, SP
Published in: Mol Genet Metab
June 2013
Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.
Duke Scholars
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
June 2013
Volume
109
Issue
2
Start / End Page
215 / 217
Location
United States
Related Subject Headings
- Treatment Outcome
- Ornithine
- Movement Disorders
- Male
- Language Development Disorders
- Infant, Newborn
- Infant
- Humans
- Guanidinoacetate N-Methyltransferase
- Glycine
Citation
APA
Chicago
ICMJE
MLA
NLM
El-Gharbawy, A. H., Goldstein, J. L., Millington, D. S., Vaisnins, A. E., Schlune, A., Barshop, B. A., … Young, S. P. (2013). Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab, 109(2), 215–217. https://doi.org/10.1016/j.ymgme.2013.03.003
El-Gharbawy, Areeg H., Jennifer L. Goldstein, David S. Millington, Amie E. Vaisnins, Andrea Schlune, Bruce A. Barshop, Andreas Schulze, Dwight D. Koeberl, and Sarah P. Young. “Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.” Mol Genet Metab 109, no. 2 (June 2013): 215–17. https://doi.org/10.1016/j.ymgme.2013.03.003.
El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, et al. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013 Jun;109(2):215–7.
El-Gharbawy, Areeg H., et al. “Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.” Mol Genet Metab, vol. 109, no. 2, June 2013, pp. 215–17. Pubmed, doi:10.1016/j.ymgme.2013.03.003.
El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013 Jun;109(2):215–217.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
June 2013
Volume
109
Issue
2
Start / End Page
215 / 217
Location
United States
Related Subject Headings
- Treatment Outcome
- Ornithine
- Movement Disorders
- Male
- Language Development Disorders
- Infant, Newborn
- Infant
- Humans
- Guanidinoacetate N-Methyltransferase
- Glycine