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1.
[Application of a low copper diet guidance based on food exchange portions in children with hepatolenticular degeneration]. / åºäºé£ç©äº¤æ¢ä»½æ³çä½é饮é£æ导å¨èè±ç¶æ ¸åæ§æ£å¿ä¸çåºç¨ææ.
Zhongguo Dang Dai Er Ke Za Zhi
; 25(6): 612-618, 2023 Jun 15.
Artículo
en Zh
| MEDLINE | ID: mdl-37382131
2.
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(4): 362-6, 2015 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-25919556
3.
[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(2): 174-80, 2014 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-24568913
4.
[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(5): 518-23, 2014 May.
Artículo
en Zh
| MEDLINE | ID: mdl-24857004
5.
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
J Hum Genet
; 58(2): 67-72, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23235335
6.
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.
World J Pediatr
; 19(7): 674-686, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36622578
7.
Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader-Willi syndrome.
World J Pediatr
; 19(5): 438-449, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36564648
8.
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(2): 147-51, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21462124
9.
[Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(4): 369-73, 2009 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-20017297
10.
[Clinical and pathological features of glycogen storage disease type III].
Zhonghua Yi Xue Za Zhi
; 89(15): 1064-6, 2009 Apr 21.
Artículo
en Zh
| MEDLINE | ID: mdl-19595259
11.
[An analysis of mutations causing Gaucher disease in Chinese population].
Zhonghua Yi Xue Za Zhi
; 89(48): 3397-400, 2009 Dec 29.
Artículo
en Zh
| MEDLINE | ID: mdl-20223112
12.
[Caroli's syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 11(1): 10-4, 2009 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-19149914
13.
[Diagnosis of Prader-Willi syndrome by methylation-specific PCR].
Zhongguo Dang Dai Er Ke Za Zhi
; 10(4): 485-8, 2008 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-18706168
14.
[Gene analysis and literature review of autosomal recessive polycystic kidney disease].
Zhonghua Er Ke Za Zhi
; 51(9): 684-7, 2013 Sep.
Artículo
en Zh
| MEDLINE | ID: mdl-24330989
15.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Zhonghua Er Ke Za Zhi
; 51(11): 836-41, 2013 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-24484558
16.
[Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
Zhonghua Er Ke Za Zhi
; 50(6): 415-9, 2012 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-22931935
17.
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Zhonghua Er Ke Za Zhi
; 49(3): 203-8, 2011 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-21575371
18.
[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
Zhonghua Er Ke Za Zhi
; 49(4): 306-10, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21624210
19.
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
Zhonghua Er Ke Za Zhi
; 47(8): 608-12, 2009 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-19951495
20.
[The importance of confirmative diagnosis of presymptomatic patients with Wilson's disease].
Zhonghua Er Ke Za Zhi
; 51(6): 406-7, 2013 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-24120054