Detalhe da pesquisa
1.
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Clin Lab
; 67(6)2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107619
2.
Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins.
J Clin Lab Anal
; 34(6): e23254, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141626
3.
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
Eur J Pediatr
; 172(9): 1277-81, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358709
4.
Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency.
Data Brief
; 48: 109090, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020897
5.
Effects of Ketogenic Diet on Reproductive Hormones in Women With Polycystic Ovary Syndrome.
J Endocr Soc
; 7(10): bvad112, 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693687
6.
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children.
Clin Pathol
; 15: 2632010X221093274, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35465134
7.
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Clin Biochem
; 98: 48-53, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626609
8.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Mol Genet Metab Rep
; 22: 100548, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32300527