Detalhe da pesquisa
1.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Hum Mutat
; 39(7): 1014-1023, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29688601
2.
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Neuropediatrics
; 49(6): 369-372, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30045381
3.
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.
Neuropediatrics
; 47(4): 263-7, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27104484
4.
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
Cephalalgia
; 31(15): 1580-6, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22013141
5.
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Mol Genet Genomic Med
; 7(10): e00961, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31475481
6.
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
Mol Genet Metab
; 94(1): 127-31, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18276179
7.
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Can J Public Health
; 99(4): 276-80, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18767270