A5004056497- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- RNA regulation and disease
- Pharmacological Effects and Toxicity Studies
- Neuroscience of respiration and sleep
- Neonatal and fetal brain pathology
- Autophagy in Disease and Therapy
- Endoplasmic Reticulum Stress and Disease
- Heme Oxygenase-1 and Carbon Monoxide
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Peroxisome Proliferator-Activated Receptors
- Ion channel regulation and function
- Sulfur Compounds in Biology
- ATP Synthase and ATPases Research
- Anesthesia and Neurotoxicity Research
- Glycogen Storage Diseases and Myoclonus
- Child and Adolescent Health
- Neonatal Health and Biochemistry
- Drug Transport and Resistance Mechanisms
- Lysosomal Storage Disorders Research
Peking University
2010-2025
Baoding People's Hospital
2025
Peking University People's Hospital
2016-2025
Shenzhen Pingle Orthopedic Hospital
2024
University of Crete
2024
Université de Bordeaux
2024
King University
2020
Central South University
2020
First Affiliated Hospital of Henan University of Traditional Chinese Medicine
2020
Hebei Medical University
2020
Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and a strategy identifying new candidate genes. To date, no large-scale study has been conducted on DD/MR patients mainland China. This included 451 Chinese children with moderate severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent...
To explore the level of, and factors affecting quality of life (QOL) in childhood epilepsy China.At Peking University First Hospital, we consecutively identified 418 parents whose children were with known to complete a questionnaire, which included children's demographic characteristics, clinical message epilepsy, QOL, familial message, parental symptoms anxiety/depression.Significant (p<0.05) current educational degree, mental development, age at diagnosis, onset, seizure frequency,...
Leptomeningeal carcinomatosis (LC) is a severe complication in the advanced stage of lung adenocarcinoma, with an extremely poor prognosis. Currently, diagnosis LC poses challenges. Serum exosomal miRNAs (microRNAs) have been demonstrated to possess potential as viable biomarkers. However, their value remains unclear. In this study, serum samples were collected from adenocarcinoma patients LC. The control groups consisted early-stage and advanced-stage without exosomes isolated for high -...
Objective: To analyz the current situation of diagnosis, treatment and prevention methylmalonic acidemia, phenotypes, biochemical features genotypes patients in mainland China, were investigated. Methods: Tottally 1 003 acidemia from 26 provinces municipalities China enrolled. The clinical data, gene mutations studied. Blood aminoacids acylcarnitines, urine organic acids, plasma total homocysteine determined for diagnosis. Gene analyses performed genetic study 661 patients. treated with...
Background Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood presents with a clinically heterogeneous variety of neuromuscular non-neuromuscular disorders. It can result from the inheritance mutations either nuclear or mitochondrial DNA. In current study, we performed retrospective study 65 patients order to investigate clinical genetic characteristics Chinese patients. Methods Sixty-five unrelated cases (35 men 30 women) who were hospitalized...
Biotinidase deficiency is a treatable cause of severe neurological disorders and skin problems. Spinal cord impairment rare complication this disease commonly unrecognized. The authors encountered 3 Chinese patients with progressive spinal demyelination associated biotinidase deficiency. Case 1 exhibited fatigue, proximal muscular weakness, hypotonic paraplegia from the age 7 years 4 months. Demyelination cervical thoracic was evident on magnetic resonance imaging (MRI). 2 developed visual...
An extremely rare case of cerebral phaeohyphomycosis caused by Exophiala dermatitidis is reported. We described an otherwise healthy young child whose presentation was a progressive intracranial hypertension and paraplegia, accompanied urine retention constipation. His blood test showed eosinophilia with the proportion eosinophilic cell up to 28%. A computed tomography magnetic resonance imaging brain spinal cord revealed multiple lesions. biopsy performed pathological report...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as molecular basis PDE help to define this disease. Three Chinese children with were clinically analyzed, followed by treatment examination mutations. The 3 patients all resistant multiple anticonvulsants (2 7 types). For case 1, onset was at age 2 months. His well controlled intravenous pyridoxine for several days months 20...