Guidelines on the construction and management of critical maternal treatment centers

National Health and Family Planning Commission of the People’s Republic of China

2018, 6(1): 1-6. Abstract ( 593) PDF (970 KB ) ( 38 )

Guidelines on the construction and management of critical newborn treatment center

National Health and Family Planning Commission of the People’s Republic of China

2018, 6(1): 7-14. Abstract ( 589) PDF (963 KB ) ( 519 )

Developmental medicine:  whole-process integration, full-chain innovation#br#

FENG Zhi-chun

2018, 6(1): 15-19. Abstract ( 527) PDF (852 KB ) ( 612 )

Glutaricacidemia type I: diagnosis, management, new born screening and prenatal diagnose#br#

E Hui-shu, Han Lian-shu

2018, 6(1): 20-24. Abstract ( 625) PDF (980 KB ) ( 320 )

Mass spectrometry combined with gene analysis for prenatal diagnosis of β-ketothiolase deficiency#br#

XU Feng, HAN Lian-shu, JI Wen-jun, et al

2018, 6(1): 25-29. Abstract ( 484) PDF (1087 KB ) ( 496 )

Genetic diagnosis for microvillus inclusion disease caused by STX3 gene mutations

CHEN Yan-chen, OUYANG Xue-jun, WANG Bin

2018, 6(1): 30-33. Abstract ( 503) PDF (1174 KB ) ( 261 )

Clinical features and gene diagnosis of children with Wiskott-Aldrich syndrome

LIN Dan-na, YU Li-hua, WANG Xiao-lan, et al

2018, 6(1): 34-39. Abstract ( 472) PDF (1060 KB ) ( 348 )

Clinical features and gene analysis of neonatal methylmalonic acidemia

CHEN Lu, HUANG Wen-di, ZHANG Juan-li, et al

2018, 6(1): 40-45. Abstract ( 571) PDF (937 KB ) ( 243 )

Severe methylmalonic acidemia cblB type: a case report and literatures review

TONG Fan, YANG Ru-lai, WU Ding-wen, et al

2018, 6(1): 45-50. Abstract ( 452) PDF (1047 KB ) ( 479 )

A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis

LI Xiao-wei, DENG mei, QIU Jian-wu, et al

2018, 6(1): 50-54. Abstract ( 700) PDF (1209 KB ) ( 283 )

A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis

LI Xiao-wei, DENG mei, QIU Jian-wu, et al

2018, 6(1): 54-58. Abstract ( 501) PDF (984 KB ) ( 424 )

Advances in molecular genetics of early infantile epileptic encephalopathy

LI Yue-zhen, WANG Bin

2018, 6(1): 58-64. Abstract ( 423) PDF (953 KB ) ( 262 )