A5101427127- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Metabolomics and Mass Spectrometry Studies
- Lysosomal Storage Disorders Research
- Biochemical and Molecular Research
- RNA modifications and cancer
- Sexual Differentiation and Disorders
- Cancer, Hypoxia, and Metabolism
- Infant Nutrition and Health
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Diabetes and associated disorders
- Genetic Syndromes and Imprinting
- Lipid metabolism and disorders
- Pregnancy and preeclampsia studies
- Cellular transport and secretion
- Calcium signaling and nucleotide metabolism
- Prenatal Screening and Diagnostics
- Trypanosoma species research and implications
- Carbohydrate Chemistry and Synthesis
- Inflammation biomarkers and pathways
XinHua Hospital
2013-2024
Shanghai Jiao Tong University
2012-2021
Second Hospital of Anhui Medical University
2015
Anhui Medical University
2015
Nantong University
2014
Taizhou People's Hospital
2014
Abstract Disorders of sexual development (DSD) are estimated to occur in 1 4500 births. Since the genetic etiology DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test challenging. Utilizing high-throughput sequencing upfront proposed as an efficient approach aid diagnosis. This study aimed examine diagnostic yield next-generation DSD. 32 patients that previously received clinical examinations and tests were selected, with or without Prior masked, then...
It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma patients with NP-C. Previously, we established a rapid test to determine the 7-ketocholesterol level and found it elevated significantly acid sphingomyelinase deficient NPD NP-C disease. Individuals randomly referred our outpatient clinics past two years for hepatosplenomegaly or isolated splenomegaly, who have excluded as Gaucher disease, individuals newborn cholestasis, psychomotor...
Background/Aims: The genetics of human height is a frequently studied and complex issue. However, there limited genetic research short stature. To uncover the subgroup patients to have higher yield propose simplified diagnostic algorithm in next generation era. Methods: This study included 114 Chinese children with SDS ≤ -2.5 unknown etiology from 2014 2015. Target/whole exome sequencing (referred as NGS) chromosomal microarray analysis (CMA) were performed on enrolled sequentially identify...
Information concerning inherited metabolic diseases in China is scarce. We investigated the prevalence and age distributions of amino acid, organic fatty acid oxidation disorders Chinese patients.Blood levels acids acylcarnitines (tandem mass spectrometry) were measured 18,303 patients with suspected diseases. Diagnosis was based on clinical features, blood or acylcarnitines, urinary (gas chromatography-mass spectrometry), (in some) gene mutation tests.Inherited confirmed 1,135 (739 males,...
Background: Newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites the blood, which may generate false-positive/negative results. Current NBS includes tandem mass spectrometry (MS/MS) for as well phenylalanine (Phe), thyroid-stimulating hormone (TSH), 17-α-hydroxyprogesterone (17-OHP), and glucose-6-phosphate dehydrogenase (G6PD) test. This study intended to explore whether next-generation sequencing (NGS) dried blood spots combining with could...
Abstract Background To summarize the relationship between different MMUT gene mutations and response to vitamin B12 in MMA. Methods This was a retrospective study of patients diagnosed with mut‐type All MMA were tested for responsiveness B12. Results There 81, 27, 158 completely responsive, partially nonresponsive groups, respectively, proportions symptom occurrence 30/81 (37.0%), 21/27 (77.8%), 131/158 (82.9%), respectively ( p < .001). The median levels posttreatment propionyl carnitine...
Methyl malonic academia (MMA) is characterized by abnormal accumulation of methyl acid in body fluids. Patients usually have a variety clinical symptoms including recurrent vomiting, metabolic acidosis, developmental delay, seizure, or death. However, few cases where the patients no symptom are also reported. Here, we conducted clinical, biochemical, and molecular analysis eight Chinese identified through newborn screening between 2003 2013. All had significantly higher blood...
This study reported the clinical prenatal diagnosis experience of families affected by methylmalonic acidemia (MMA) evaluated at a single center over 8 years, and reliability biochemical approach for was analyzed.Prenatal data 187 MMA referred to our from 2009 2016 were reviewed retrospectively. The results genetic analysis compared.A total 41 MMA-affected pregnancies (21%) identified. could identify true status 99.5% fetuses. diagnostic sensitivities propionylcarnitine (C3) level, C3...
Abstract Background Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of metabolism, different approaches have been applied to its prenatal diagnosis. To evaluate reliability biochemical method for diagnosis cblC defect, we conducted a retrospective study our 10-year experience at single center. Methods 248 pregnancies whose probands were diagnosed as defect referred center from January 2010 December 2019. Prenatal data Hcy...
To investigate the MUT gene mutations in patients with methylmalonic acidemia (MMA), and analyze genotype-phenotype correlation methylmalonyl-CoA mutase deficiency.The diagnosis of disease mainly depends on measurement C3 (acylcarnitine), C3/C0 (free carnitine) C3/C2 (acetylcarnitine) blood by tandem mass spectrometry, detection acid urine gas-chromatography determination total homocysteine serum, loading test vitamin B(12). The entire coding region was screened PCR combined direct DNA...