Publicação
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
| dc.contributor.author | Araujo, HC | |
| dc.contributor.author | Smit, W | |
| dc.contributor.author | Verhoeven, NM | |
| dc.contributor.author | Salomons, GS | |
| dc.contributor.author | Silva, S | |
| dc.contributor.author | Vasconcelos, R | |
| dc.contributor.author | Tomas, H | |
| dc.contributor.author | de Almeida, IT | |
| dc.contributor.author | Jakobs, C | |
| dc.contributor.author | Duran, M | |
| dc.date.accessioned | 2015-12-30T10:18:07Z | |
| dc.date.available | 2015-12-30T10:18:07Z | |
| dc.date.issued | 2005 | |
| dc.description.abstract | Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to t | |
| dc.format | application/pdf | |
| dc.identifier.citation | AMERICAN JOURNAL OF MEDICAL GENETICS PART A. - Vol. 133A, n. 2 (2005), p. 122-127 | |
| dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.30226 | |
| dc.identifier.issn | 1552-4825 | |
| dc.identifier.uri | http://hdl.handle.net/10451/21415 | |
| dc.language.iso | eng | |
| dc.publisher | WILEY-LISS | |
| dc.subject | Genetics & Heredity | |
| dc.title | Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation | |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 127 | por |
| oaire.citation.startPage | 122 | por |
| oaire.citation.title | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | por |
| oaire.citation.volume | Vol. 133A | por |
| rcaap.rights | restrictedAccess | |
| rcaap.type | article |