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1Academic Journal
المؤلفون: Wing-yan Au, Suk-Kwan Tsang, Ben K.L. Cheung, Tak-Shing Siu, Edmond S.K. Ma, Sidney Tam
المصدر: Haematologica, Vol 92, Iss 4 (2007)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Tak-Shing Siu, King-fai Ng, Stella Chim, Sidney Tam, Chloe Miu Mak, Ching-Wan Lam
المصدر: Clinical Biochemistry. 46:155-159
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Hydrolases, medicine.medical_treatment, Clinical Biochemistry, Hypoglycemia, Liver transplantation, Tyrosinemia Type I, Hypoxic Ischemic Encephalopathy, Neonatal Screening, Hepatorenal syndrome, medicine, Humans, Global developmental delay, Hepatic encephalopathy, Newborn screening, Tyrosinemias, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Mutation, Hong Kong, business, Liver Failure
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3
المؤلفون: Patrick H. Maxwell, Huaqiang Yang, Qingjian Zou, Xichen Bao, Quanjun Zhang, Jiayin Yang, Wenjuan Li, Zhiwei Luo, Fei Jiang, Miguel A. Esteban, Jonathan Frampton, Liangxue Lai, Sidney Tam, Chengdan Lai, Philip N. Newsome, Tak-Shing Siu, Dongye Wang, Shuhan Chen, Qian Chen, Ping Zhao, Baoming Qin, Hung-Fat Tse, Yan Wang, Li Li
المساهمون: Maxwell, Patrick [0000-0002-0338-2679], Apollo - University of Cambridge Repository
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Hydrolases, Genetic enhancement, gene knock-out, Biology, Kidney, liver, Biochemistry, Tyrosinemia, 03 medical and health sciences, Gene Knockout Techniques, stem cells, Internal medicine, medicine, Animals, Humans, Tyrosine, Molecular Biology, Gene knockout, Tyrosinemias, animal model, Molecular Bases of Disease, Cell Biology, medicine.disease, 3. Good health, Transplantation, Disease Models, Animal, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Hepatocytes, Fumarylacetoacetate hydrolase, Female, Rabbits, Stem cell, Liver Failure, transplantation
وصف الملف: application/pdf
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المؤلفون: Ching-Wan Lam, Chloe Miu Mak, Tak-Shing Siu, Sidney Tam, Chor Kwan Ching, Virginia Wong, Cheuk Wing Fung, Wai Lun Poon, Ho Ming Luk, Jane Pui Ki Tsang
المصدر: Pediatric Neurology. 47:263-269
مصطلحات موضوعية: Liver Cirrhosis, Delayed Diagnosis, Palliative care, Hyperargininemia, Gastroenterology, Fatal Outcome, Sodium Benzoate, Spastic, Sequence Deletion, Ultrasonography, Liver Neoplasms, Palliative Care, Combined Modality Therapy, Arginase, Phenotype, Liver, Neurology, Codon, Nonsense, Disease Progression, Anticonvulsants, Female, medicine.medical_specialty, Carcinoma, Hepatocellular, Molecular Sequence Data, Cerebral palsy, Young Adult, Developmental Neuroscience, Internal medicine, medicine, Humans, Diagnostic Errors, ARG1, Newborn screening, Epilepsy, Base Sequence, business.industry, Cerebral Palsy, Contraindications, Valproic Acid, medicine.disease, nervous system diseases, Radiography, Endocrinology, Peripheral neuropathy, Pediatrics, Perinatology and Child Health, Dementia, Neurology (clinical), business
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5
المؤلفون: Tak-Shing Siu, S. H. Tsui, Sidney Tam, P. S.C. Leung
المصدر: Hong Kong Journal of Emergency Medicine. 18:264-270
مصطلحات موضوعية: business.industry, medicine.medical_treatment, Anion gap, 030208 emergency & critical care medicine, Metabolic acidosis, 030204 cardiovascular system & hematology, medicine.disease, Respiratory compensation, High anion gap metabolic acidosis, Acetaminophen, 03 medical and health sciences, 0302 clinical medicine, Anesthesia, Emergency Medicine, medicine, medicine.symptom, Antidote, business, Drug metabolism, medicine.drug, Acidosis
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المؤلفون: Tak-Shing Siu, Chi-Ming Che, Kwan-Ming Ng, Xiaoyan Che, Kwok-Yung Yuen, Ching-Wan Lam, Stephen Sin-Yin Chui, Ho-Wai Tang, Lawrence Chuen-Leung Lan
المصدر: Analytical Chemistry. 81:3676-3682
مصطلحات موضوعية: Chromatography, Triazines, Food Contamination, Sinapinic acid, Mass spectrometry, Sensitivity and Specificity, Analytical Chemistry, Kidney Calculi, chemistry.chemical_compound, Matrix-assisted laser desorption/ionization, chemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Desorption, Melamine cyanurate, Humans, Sample preparation, Child, Cyanuric acid, Melamine
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المؤلفون: Sidney Tam, Bonnie Fong, Tak-Shing Siu
المصدر: Analytical and bioanalytical chemistry. 407(25)
مصطلحات موضوعية: Adult, Male, medicine.drug_class, Tandem mass spectrometry, Biochemistry, Analytical Chemistry, chemistry.chemical_compound, Young Adult, Limit of Detection, Tandem Mass Spectrometry, Hyperaldosteronism, medicine, Humans, Aldosterone, Aged, Detection limit, Chromatography, Reproducibility of Results, Radioimmunoassay, Assay sensitivity, Middle Aged, medicine.disease, Hypokalemia, chemistry, Mineralocorticoid, Calibration, Female, medicine.symptom, Chromatography, Liquid
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المؤلفون: Tak-Shing Siu, Ching-Wan Lam, Sun Young Cho, Sidney Tam, Oliver C.K. Ma
المصدر: Clinica Chimica Acta. 425:125-127
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Molecular Sequence Data, Physical Exertion, Clinical Biochemistry, Mutation, Missense, Biochemistry, Acyl-CoA, chemistry.chemical_compound, Asian People, Internal medicine, medicine, Humans, Carnitine palmitoyltransferase II, Carnitine O-palmitoyltransferase, Myopathy, Base Sequence, Carnitine O-Palmitoyltransferase, Fatty acid metabolism, Myoglobinuria, Biochemistry (medical), General Medicine, medicine.disease, Endocrinology, chemistry, Carnitine palmitoyltransferase II deficiency, medicine.symptom, Rhabdomyolysis, Metabolism, Inborn Errors
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المؤلفون: Sidney Tam, Tak-Shing Siu, Bonnie Fong
المصدر: Clinical Chemistry. 57:9-11
مصطلحات موضوعية: Adult, medicine.medical_specialty, Bilirubin, medicine.medical_treatment, Clinical Biochemistry, Ultrafiltration, Liver transplantation, Gastroenterology, Diagnosis, Differential, Liver disease, chemistry.chemical_compound, Internal medicine, Humans, Medicine, False Positive Reactions, Antipyretic, Acetaminophen, Prothrombin time, medicine.diagnostic_test, business.industry, Biochemistry (medical), Liver Failure, Acute, medicine.disease, Endocrinology, chemistry, Female, Liver function, business, Decreased liver function, medicine.drug
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المؤلفون: Han-Chih Hencher Lee, Sidney Tam, Chi-Kong Lai, Ching-Wan Lam, Y P Yuen, Albert Yan-Wo Chan, Kwok-Yin Chan, Chloe Miu Mak, Tak-Shing Siu
المصدر: Diagnostic Molecular Pathology. 19:184-186
مصطلحات موضوعية: Male, China, Pathology, medicine.medical_specialty, Adolescent, Autopsy, Disease, Pathology and Forensic Medicine, Fatal Outcome, Asian People, Diagnosis, Convulsion, Humans, Medicine, Missense mutation, Genetic Testing, Pathology, Molecular, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Molecular Biology, Genetic testing, medicine.diagnostic_test, business.industry, Metabolic disorder, Glutaric aciduria, Cell Biology, medicine.disease, Age of onset, medicine.symptom, business
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المؤلفون: Ching-Wan Lam, Sidney Tam, KC Lau, Bonnie Fong, Tak-Shing Siu
المصدر: Clinica Chimica Acta. 400:132-134
مصطلحات موضوعية: Genetics, Regulation of gene expression, Mutation, Biochemistry (medical), Clinical Biochemistry, General Medicine, Biology, Ferrochelatase, medicine.disease_cause, medicine.disease, Biochemistry, Polymorphism (computer science), Genotype, medicine, biology.protein, Erythropoietic protoporphyria, Allele, Allele frequency
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المؤلفون: K H Poon, Tak-Shing Siu, C W Lam, Y P Yuen, Albert Yan-Wo Chan, Hencher H C Lee, Judy P S Lai, Chi-Kong Lai, CM Mak, Kam-Ming Au
المصدر: Hong Kong medical journal = Xianggang yi xue za zhi. 20(1)
مصطلحات موضوعية: Male, Ornithine, Pediatrics, medicine.medical_specialty, Heterozygote, Prenatal diagnosis, Compound heterozygosity, Mitochondrial Membrane Transport Proteins, Liver disease, Neonatal Screening, Prenatal Diagnosis, medicine, Homocitrullinuria, Humans, Hyperammonemia, Amino Acids, Child, Urea Cycle Disorders, Inborn, Genetic testing, Newborn screening, medicine.diagnostic_test, biology, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Optimal management, Child, Preschool, biology.protein, Amino Acid Transport Systems, Basic, business, Ornithine translocase
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المؤلفون: O. C. K. Ma, Tak-Shing Siu, A. C. C. Ho, Virginia Wong, Cheuk-Wing Fung, Ching-Wan Lam, Sidney Tam
المصدر: JIMD Reports ISBN: 9783319034607
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Mutation, business.industry, Chromosome, Lathosterolosis, Lathosterol, medicine.disease, medicine.disease_cause, Compound heterozygosity, Article, Sterol, chemistry.chemical_compound, Endocrinology, chemistry, Smith–Lemli–Opitz syndrome, Simvastatin, Internal medicine, polycyclic compounds, Medicine, lipids (amino acids, peptides, and proteins), business, medicine.drug
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المؤلفون: Ngan-Shan Kwong, Wai-Kwan Siu, Sylvia Luen-Yee Siu, Tak-Shing Siu, Albert Yan-Wo Chan, Chloe Miu Mak, Ching-Wan Lam, Chun-Yin Pang
المصدر: Diagnostic molecular pathology : the American journal of surgical pathology, part B. 21(3)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Heterozygote, Mitochondrial Diseases, RNA Splicing, Compound heterozygosity, Asymptomatic, Lipid Metabolism, Inborn Errors, Pathology and Forensic Medicine, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, Fatal Outcome, Neonatal Screening, Muscular Diseases, Tandem Mass Spectrometry, Medicine, Congenital Bone Marrow Failure Syndromes, Humans, Favorable outcome, Preventable death, Molecular Biology, Newborn screening, business.industry, Siblings, Acyl-CoA Dehydrogenase, Long-Chain, Fatty acid oxidation defects, Infant, Newborn, Infant, Cell Biology, Sequence Analysis, DNA, Mutation, Hong Kong, medicine.symptom, business, Novel mutation
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المؤلفون: Wai Ming Chan, Sik Hon Tsui, Chun Wing Yeung, Bonnie Fong, Sidney Tam, Nga Wing Tsai, Ho Yin Chung, Tak-Shing Siu
المصدر: Pharmacology. 88(5-6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Heart Diseases, medicine.drug_class, medicine.medical_treatment, chemistry.chemical_compound, Asian People, Risk Factors, Diabetes mellitus, Internal medicine, medicine, Humans, Hypoglycemic Agents, Renal replacement therapy, Acidosis, Aged, Pharmacology, Aged, 80 and over, Creatinine, business.industry, Biguanide, Mortality rate, General Medicine, Middle Aged, medicine.disease, Metformin, Renal Replacement Therapy, Stroke, Endocrinology, chemistry, Diabetes Mellitus, Type 2, Lactic acidosis, Amylases, Hypertension, Acidosis, Lactic, Female, Kidney Diseases, medicine.symptom, Drug Overdose, business, medicine.drug
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المؤلفون: Sidney Tam, Wing-Tat Poon, Yuet-Ping Yuen, Wai-Kwan Siu, Ngai-Shan Kwong, Tak-Shing Siu, Albert Yan-Wo Chan, David Shu Yan Lam, Chloe Miu Mak, Ching-Wan Lam, Ho Leung Ng, Chun-Yiu Law, Tak-Lun Que, Sui-fun Tong, Nai-Chung Fong, Chi-Kong Lai, Han-Chih Hencher Lee
المصدر: Journal of human genetics. 56(8)
مصطلحات موضوعية: Male, Genotype, Encephalopathy, DNA Mutational Analysis, Molecular Sequence Data, Disease, Biology, Fatal Outcome, Risk Factors, Carnitine, Enzyme Stability, Influenza, Human, Genetics, medicine, Carnitine palmitoyltransferase II, Humans, Genetic Predisposition to Disease, Expressivity (genetics), Encephalitis, Viral, Risk factor, Thermolabile, Allele frequency, Genetics (clinical), Family Health, Base Sequence, Carnitine O-Palmitoyltransferase, Temperature, medicine.disease, Penetrance, Virology, Pedigree, Amino Acid Substitution, Child, Preschool, Immunology, Mutation, Female
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18
المؤلفون: Han-Chih Hencher, Lee, Chloe Miu, Mak, Ching-Wan, Lam, Yuet-Ping, Yuen, Angel On-Kei, Chan, Chi-Chung, Shek, Tak-Shing, Siu, Chi-Kong, Lai, Chor-Kwan, Ching, Wai-Kwan, Siu, Sammy Pak-Lam, Chen, Chun-Yiu, Law, Hok-Leung Morris, Tai, Sidney, Tam, Albert Yan-Wo, Chan
المصدر: Chinese medical journal. 124(7)
مصطلحات موضوعية: Neonatal Screening, Tandem Mass Spectrometry, Carnitine, Infant, Newborn, Hong Kong, Humans, Amino Acids, Acids, Metabolism, Inborn Errors
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المؤلفون: Y P Yuen, Chloe Miu Mak, Han-Chih Hencher Lee, Sidney Tam, Kin-Cheong Eric Yau, Kwok-Yin Chan, Tak-Shing Siu, Albert Yan-Wo Chan, Ching-Wan Lam, Chi-Kong Lai
المصدر: Clinica chimica acta; international journal of clinical chemistry. 413(1-2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Urinary system, Clinical Biochemistry, PNPO, Pilot Projects, Urine, Biochemistry, Gastroenterology, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Cerebrospinal fluid, Internal medicine, medicine, Prevalence, Humans, Neurotransmitter, Amino Acid Metabolism, Inborn Errors, Aromatic L-amino acid decarboxylase, medicine.diagnostic_test, Lumbar puncture, Chemistry, Biochemistry (medical), Infant, General Medicine, Aromatic-L-Amino-Acid Decarboxylases, Hong Kong, Urine organic acids
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المؤلفون: Hon Cheung Lee, Chun-Hung Ko, Yan-Wo Chan, Chloe Miu Mak, Virginia Wong, Yuet-Ping Yuen, Sidney Tam, S.P. Chen, Sui-Fan Tong, WL Yeung, Cheuk-Wing Fung, Ching-Wan Lam, Tak-Shing Siu, B Chan, Joannie Hui, Louis C K Low, KY Chan, E. Yau, Wai-Kwan Siu
المصدر: Molecular genetics and metabolism. 99(4)
مصطلحات موضوعية: Male, Tyrosine 3-Monooxygenase, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Nonsense, Biology, medicine.disease_cause, Biochemistry, chemistry.chemical_compound, Endocrinology, Asian People, Genetics, medicine, Missense mutation, Humans, Age of Onset, Neurotransmitter, Child, Molecular Biology, Gene, media_common, Mutation, Tyrosine hydroxylase, Infant, Homovanillic Acid, Galactorrhea, Dystonia, chemistry, Child, Preschool, RNA splicing, Hong Kong, Muscle Hypotonia, Female, Age of onset