A5077153791- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- RNA modifications and cancer
- Biochemical and Molecular Research
- Cancer Genomics and Diagnostics
- Pediatric Hepatobiliary Diseases and Treatments
- Lung Cancer Research Studies
- Organ Transplantation Techniques and Outcomes
- Metabolism, Diabetes, and Cancer
- Blood disorders and treatments
- Pediatric health and respiratory diseases
- Lung Cancer Diagnosis and Treatment
- Birth, Development, and Health
- Respiratory and Cough-Related Research
- Liver Diseases and Immunity
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Gallbladder and Bile Duct Disorders
- Infant Nutrition and Health
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
Shandong Maternal and Child Health Hospital
2023
Shandong First Medical University
2021-2023
Jinan Maternity And Care Hospital
2014-2020
China-Japan Friendship Hospital
2020
Shanghai Chest Hospital
2018
Jinan Central Hospital
2015
Shandong University
2015
Southwest Hospital
2005
Army Medical University
2005
Summary Background Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring formidable economic burden parents and caregivers. It still unknown what out‐of‐pocket expenses are for patient with in China. This paper explores household financial classical impact on Chinese families quantitative manner first time. Methods A non‐interventional observational study was conducted at...
BackgroundThe mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in MUT gene. The aim this study was to summarize clinical and biochemical data, spectrum mutations, treatment regime follow-up patients with MMA Jan 2013 Dec 2017 Shandong province, China.MethodsTwenty were diagnosed isolated elevated C3, C3/C2, urine acid levels without hyperhomocysteinemia. gene amplified sequenced. Most received specific medical...
Abstract Background Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported China and are limited to analysis of its clinical abnormalities, medical imaging features gene variation. The aim this study was investigate phenotype, manifestations genetic characteristics BPRS ASXL3 mutation. Clinical data, data test results BRPS infant patients were...
Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. Here, we describe presenting symptoms, clinical course gene mutation analysis Chinese boy MSUD.Plasma amino acid was performed tandem mass spectrometry levels organic acids were measured gas chromatography-mass spectrometry. The...
Mowat-Wilson syndrome (MWS) is a rare complex malformation which characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we summarize the clinical characteristics gene mutation analysis of Chinese boy with MWS.The features patient were monitored. DNA extracted from peripheral blood was subjected sequencing analysis. Then, whole-exome performed.A novel deletion (c.1137_1146del TAGTATGTCT)...
Purpose: Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung (HSCR), global developmental delay and other congenital malformations. Here, we summarize characteristics genetic mutation analysis three Chinese patients with MWS. Patients Methods: were monitored treatment effect was followed up. DNA extracted from peripheral blood analyzed sequencing. Whole...
Abstract Background Since the inception of newborn screening programs in China 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores management and outcomes planned, full-term pregnancies phenylketonuria (PKU). Method Married PKU from 2012 to 2017 were enrolled receive prenatal counseling regular health assessments. Study-related assessments included timing Phe-restricted diets, maternal weight gain, gestational age, complications,...
Abstract Purpose: Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung (HSCR), global developmental delay and other congenital malformations. Here, we summarize characteristics genetic mutation analysis three Chinese patients with MWS. Patients Methods: were monitored treatment effect was followed up. DNA extracted from peripheral blood analyzed sequencing....
Abstract Background Since the inception of newborn screening programs in China 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores management and outcomes planned, full-term pregnancies phenylketonuria (PKU). Method Married PKU from 2012 to 2017 were enrolled receive prenatal counseling regular health assessments. Study-related assessments included timing Phe-restricted diets, maternal weight gain, gestational age, complications,...
Abstract Background Since the inception of newborn screening programs in China 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores management and outcomes planned, full-term pregnancies phenylketonuria (PKU). Method Married PKU from 2012 to 2017 were enrolled receive prenatal counseling regular health assessments. Study-related assessments included timing Phe-restricted diets, maternal weight gain, gestational age, complications,...