Detalles de la búsqueda
1.
Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.
Clin Lab
; 64(7): 1145-1151, 2018 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30146843
2.
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(11): 944-949, 2018 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-30477628
3.
Treatment with Isorhamnetin Protects the Brain Against Ischemic Injury in Mice.
Neurochem Res
; 41(8): 1939-48, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27161367
4.
[Limb torsion and developmental regression for one month after hand, foot and mouth disease in an infant].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(5): 426-30, 2016 May.
Artículo
en Zh
| MEDLINE | ID: mdl-27165592
5.
[Psychomotor retardation and intermitent convulsions for 8 months in an infant].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(1): 67-71, 2016 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-26781416
6.
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(10): 1103-6, 2015 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-26483233
7.
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(2): 172-5, 2015 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-25760844
8.
[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(6): 624-8, 2014 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-24927440
9.
[Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(1): 62-6, 2014 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-24461181
10.
[A boy with Fabry disease with the onset at the age of four].
Beijing Da Xue Xue Bao Yi Xue Ban
; 45(2): 307-11, 2013 Apr 18.
Artículo
en Zh
| MEDLINE | ID: mdl-23591357
11.
Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.
Front Nutr
; 10: 1124387, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37252234
12.
[Intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency in a Chinese boy].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(4): 241-6, 2012 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-22537948
13.
[Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(8): 561-6, 2012 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-22898272
14.
[Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
Zhongguo Dang Dai Er Ke Za Zhi
; 13(5): 392-5, 2011 May.
Artículo
en Zh
| MEDLINE | ID: mdl-21575345
15.
[Leigh syndrome due to mitochondrial respiratory chain complex II deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 13(7): 569-72, 2011 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-21752325
16.
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.
Chin Med J (Engl)
; 121(3): 216-9, 2008 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-18298912
17.
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
World J Pediatr
; 14(2): 197-203, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29508359
18.
[Skin lesions induced by malnutrition in an infant with methylmalonic aciduria and homocysteic acidemia].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(3): 233-4, 2012 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-22433417
19.
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
Brain Dev
; 36(3): 264-7, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23611581
20.
Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.
Brain Dev
; 36(5): 394-8, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23849264