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Article
Effects of Bifidobacterium supplementation on intestinal microbiota composition and the immune response in healthy infants
Intestinal microbiotas are thought to be the most important source of maturational stimuli to the development of the immune system. However, few studies have focused on the development of T helper (Th) 1 immun...
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Article
Chinese guidelines for the diagnosis and treatment of hand, foot and mouth disease (2018 edition)
Hand, foot, and mouth disease (HFMD) is a common infectious disease in childhood caused by an enterovirus (EV), and which is principally seen in children under 5 years of age. To promote diagnostic awareness a...
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Article
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects the degradation of branched-chain amino acids and is associated with acute and chronic brain dysfunction. This study p...
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Article
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort
Infantile hydrocephalus (IHC) is commonly related to other central nervous system diseases, which may have adverse effects on prognosis. The causes of IHC are heterogeneous, and the genetic etiologies are not ...
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Article
Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database
Primary vesicoureteral reflux (VUR) is a common congenital anomaly of the kidney and urinary tract (CAKUT) in childhood. The present study identified the possible genetic contributions to primary VUR in children.
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Article
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
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Article
Open AccessHuman adenovirus (HAdV) infection in children with acute respiratory tract infections in Guangzhou, China, 2010–2021: a molecular epidemiology study
Human adenovirus (HAdV) infection can cause a variety of diseases. It is a major pathogen of pediatric acute respiratory tract infections (ARIs) and can be life-threatening in younger children. We described th...
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Article
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants
During next generation sequencing (NGS) data interpretation in critically ill newborns, there is a potential for recognizing and reporting secondary findings (SFs). Early awareness of SFs may provide clues for...
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Article
Risk stratification of hemodynamically significant patent ductus arteriosus by clinical and genetic factors
Hemodynamically significant patent ductus arteriosus (hsPDA) is associated with increased comorbidities in neonates. Early evaluation of hsPDA risk is critical to implement individualized intervention. The aim...