Detalhe da pesquisa
1.
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
J Inherit Metab Dis
; 39(2): 261-71, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497565
2.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
3.
Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.
JIMD Rep
; 16: 51-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24997712