Detalhe da pesquisa
1.
Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.
Cell Mol Life Sci
; 79(7): 375, 2022 Jun 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35727412
2.
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
Gynecol Endocrinol
; 36(10): 929-933, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32223457
3.
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
Metab Brain Dis
; 30(6): 1439-44, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26260157
4.
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Zhongguo Dang Dai Er Ke Za Zhi
; 15(8): 661-5, 2013 Aug.
Artigo
Chinês
| MEDLINE | ID: mdl-23965881
5.
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Clin Biochem
; 84: 63-72, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32569589
6.
Simultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders.
Clin Chim Acta
; 495: 406-416, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31095934
7.
Combination of a Haploidentical Stem Cell Transplant With Umbilical Cord Blood for Cerebral X-Linked Adrenoleukodystrophy.
Pediatr Neurol
; 53(2): 163-5.e1, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26088837
8.
A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
J Pediatr Endocrinol Metab
; 28(5-6): 725-9, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25423669