Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
3.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab
; 115(1): 41-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892708
4.
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.
J Pediatr Endocrinol Metab
; 29(9): 1031-9, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544719
5.
Overcoming the barriers to diagnosis of Morquio A syndrome.
Orphanet J Rare Dis
; 9: 192, 2014 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25433535
6.
Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
J Dermatol Sci
; 44(1): 48-51, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16814527