Detalhe da pesquisa
1.
Selective elimination of mitochondrial mutations in the germline by genome editing.
Cell;
161(3): 459-469, 2015 Apr 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25910206
2.
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Hum Mutat;
38(5): 524-531, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28101991
3.
Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.
J Inherit Metab Dis;
38(3): 581, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25164782
4.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.
J Inherit Metab Dis;
33(6): 803-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20852934
5.
12th International Congress of Inborn Errors of Metabolism, 3rd-6th September, 2013.
J Inherit Metab Dis;
37(4): 481, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24966163
6.
Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies.
Brain Dev;
30(2): 106-11, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17714901
7.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
Lancet Diabetes Endocrinol;
5(9): 743-756, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28082082
8.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
PLoS One;
11(5): e0156359, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27243974
9.
Issues with European guidelines for phenylketonuria - Authors' reply.
Lancet Diabetes Endocrinol;
5(9): 683-684, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28842159
10.
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Arch Neurol;
68(5): 615-21, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21555636
11.
Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome.
J Child Neurol;
24(1): 101-4, 2009 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19168824