Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA

von Yi, M N
Veröffentlicht in: Zhonghua er ke za zhi = Chinese journal of pediatrics (2023)

Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids

von Bu, X X
Veröffentlicht in: Zhonghua er ke za zhi = Chinese journal of pediatrics (2022)

Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency

von Gong, Z W
Veröffentlicht in: Zhonghua er ke za zhi = Chinese journal of pediatrics (2016)

Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C

von Zhan, X
Veröffentlicht in: Zhonghua er ke za zhi = Chinese journal of pediatrics (2016)