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 ( 583) PDF (970 KB ) ( 37 )

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 ( 571) PDF (963 KB ) ( 518 )

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

FENG Zhi-chun

2018, 6(1): 15-19. Abstract ( 517) PDF (852 KB ) ( 536 )

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

E Hui-shu, Han Lian-shu

2018, 6(1): 20-24. Abstract ( 604) PDF (980 KB ) ( 305 )

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 ( 476) PDF (1087 KB ) ( 410 )

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 ( 489) PDF (1174 KB ) ( 251 )

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 ( 465) PDF (1060 KB ) ( 336 )

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 ( 562) PDF (937 KB ) ( 232 )

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 ( 444) PDF (1047 KB ) ( 451 )

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 ( 691) PDF (1209 KB ) ( 277 )

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 ( 489) PDF (984 KB ) ( 363 )

Advances in molecular genetics of early infantile epileptic encephalopathy

LI Yue-zhen, WANG Bin

2018, 6(1): 58-64. Abstract ( 416) PDF (953 KB ) ( 254 )