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1دورية أكاديمية
المؤلفون: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: Glycogen storage disease type Ib, GSD Ib, slc37a4, Pediatric, Empagliflozin, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao, Minyan Jiang, Aijing Xu, Yunting Lin, Li Liu
المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: MODY, Glucokinase, Genetics, Chinese, Children, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3
المؤلفون: Huiying Sheng, Xiuzhen Li, Aijing Xu, Minyan Jiang, Yunting Lin, Cui Li Liang, Yongxian Shao, Li Liu, Tzer Hwu Ting
المصدر: BMC Pediatrics
BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, China, DNA Mutational Analysis, 030209 endocrinology & metabolism, Gene mutation, Asymptomatic, Maturity onset diabetes of the young, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Internal medicine, Diabetes mellitus, Glucokinase, medicine, Genetics, Humans, 030212 general & internal medicine, Child, Gene, Children, Polymerase chain reaction, Chinese, Direct sequencing, business.industry, lcsh:RJ1-570, Infant, lcsh:Pediatrics, medicine.disease, Prognosis, Diabetes Mellitus, Type 2, Child, Preschool, Pediatrics, Perinatology and Child Health, MODY, Mutation, Female, medicine.symptom, business, Research Article, Follow-Up Studies
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4Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization
المؤلفون: Yanna Cai, Minzhi Peng, Cui-li Liang, Xiaoyuan Zhao, MinYan Jiang, Hong Luo, Li Liu, Huiying Sheng, Zhiying Ou
المصدر: Journal of Chromatography B. 932:12-18
مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Clinical Biochemistry, Tandem mass spectrometry, Sensitivity and Specificity, Biochemistry, High-performance liquid chromatography, Analytical Chemistry, chemistry.chemical_compound, Isomerism, Tandem Mass Spectrometry, Carnitine, medicine, Humans, Derivatization, Palmitoylcarnitine, Chromatography, Chemistry, Hydrophilic interaction chromatography, Selected reaction monitoring, Cell Biology, General Medicine, medicine.disease, Organic acidemia, Hydrophobic and Hydrophilic Interactions, Chromatography, Liquid, medicine.drug
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5
المؤلفون: Minzhi Peng, Li-ping Fan, Li Liu, MinYan Jiang, Ruizhu Lin, Hua Jiang, Yonglan Huang, Huiying Sheng, Cui-li Liang, Yanna Cai
المصدر: Metabolic brain disease. 30(6)
مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, China, Time Factors, medicine.medical_treatment, Population, Neuroimaging, Disease, Hematopoietic stem cell transplantation, Biology, Biochemistry, ATP Binding Cassette Transporter, Subfamily D, Member 1, Cellular and Molecular Neuroscience, Young Adult, Adrenocorticotropic Hormone, Asian People, Internal medicine, Peroxisomal disorder, Adrenal insufficiency, medicine, Missense mutation, Humans, education, Adrenoleukodystrophy, Adrenocortical Insufficiency, education.field_of_study, Fatty Acids, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Child, Preschool, Mutation, Disease Progression, ATP-Binding Cassette Transporters, Female, Neurology (clinical), Nervous System Diseases, Gene Deletion, Adrenal Insufficiency
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6
المؤلفون: Sha Liu, Yanna Cai, Cui-li Liang, Li Liu, MinYan Jiang, Hua Jiang
المصدر: Pediatric neurology. 53(2)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, medicine.medical_treatment, Central nervous system, Cell- and Tissue-Based Therapy, Hematopoietic stem cell transplantation, Umbilical cord, Myelin, Developmental Neuroscience, Internal medicine, Medicine, Humans, Adrenoleukodystrophy, Cerebral Cortex, business.industry, Hematopoietic Stem Cell Transplantation, Hematopoietic stem cell, medicine.disease, Fetal Blood, Transplantation, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Neurology (clinical), Stem cell, business
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7
المؤلفون: Li-ping Fan, MinYan Jiang, Xi-qing Chen, Yanna Cai, Huiying Sheng, Cui-li Liang, Li Liu, Jing Cheng, Minzhi Peng
المصدر: Journal of Pediatric Endocrinology and Metabolism. 28
مصطلحات موضوعية: Male, China, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Very long chain fatty acid, Gene mutation, Bioinformatics, ATP Binding Cassette Transporter, Subfamily D, Member 1, chemistry.chemical_compound, Endocrinology, Animals, Humans, Medicine, Amino Acid Sequence, Adrenoleukodystrophy, Child, Gene, Sequence Homology, Amino Acid, business.industry, Intron, Genetic Diseases, X-Linked, medicine.disease, Phenotype, Xq28, chemistry, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), ATP-Binding Cassette Transporters, business
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8
المؤلفون: Li Liu, Huiying Sheng, Minzhi Peng, Yanna Cai, MinYan Jiang, Cui-li Liang
المصدر: International Journal of Pediatric Endocrinology
مصطلحات موضوعية: Butyryl-CoA Dehydrogenase, Male, China, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Urinary system, Dehydrogenase, Biology, Tandem mass spectrometry, Polymorphism, Single Nucleotide, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Short-Chain Acyl-Coa Dehydrogenase Deficiency, Endocrinology, Seizures, Intellectual Disability, Internal medicine, Rare mutations, Humans, Medicine, Gene, Genetics, business.industry, Infant, Ethylmalonic acid, Molecular biology, Phenotype, Dehydrogenase deficiency, Male patient, Pediatrics, Perinatology and Child Health, Poster Presentation, business, Scad
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9
المؤلفون: Cui-Li, Liang, Li, Liu, Hui-Ying, Sheng, Min-Yan, Jiang, Xi, Yin, Hui-Fen, Mei, Jing, Cheng, Wen, Zhang, Li-Ping, Fan
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 15(8)
مصطلحات موضوعية: Male, Monosaccharide Transport Proteins, Child, Preschool, Mutation, Humans, Infant, Female, Sequence Analysis, DNA, Glycogen Storage Disease Type I, Antiporters
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::56dc08caa93071ca36ed099280f495be
https://pubmed.ncbi.nlm.nih.gov/23965881 -
10
المؤلفون: Li Liu, Ruizhu Lin, Minzhi Peng, Yanna Cai, Yonglan Huang, Cui-li Liang, Xiefan Fang
المصدر: Journal of chromatography. A. 1319
مصطلحات موضوعية: Chromatography, Chemistry, Organic Chemistry, Fatty Acids, Fatty acid oxidation defects, Reproducibility of Results, Butyrylcarnitine, General Medicine, Glutarylcarnitine, Reference Standards, Mass spectrometry, Biochemistry, Analytical Chemistry, Triple quadrupole mass spectrometer, Reference intervals, Diagnosis, Differential, Isomerism, Liquid chromatography–mass spectrometry, Tandem Mass Spectrometry, Carnitine, Humans, Quadrupole ion trap, Oxidation-Reduction, Chromatography, High Pressure Liquid, Metabolism, Inborn Errors