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1دورية أكاديمية
المؤلفون: Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu
المصدر: Pediatrics and Neonatology, Vol 59, Iss 4, Pp 397-403 (2018)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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2
المؤلفون: Lock Hock Ngu, Huey Yin Leong, Bee Chin Chen, Wee Teik Keng, Yusnita Yakob, Lip Hen Moey, Nor Azimah Abdul Azize
المصدر: Pediatrics and Neonatology, Vol 59, Iss 4, Pp 397-403 (2018)
مصطلحات موضوعية: Adult, Fructose-1,6-Diphosphatase Deficiency, Male, 0301 basic medicine, medicine.medical_specialty, Recurrent hypoglycemia, Hypoglycemia, Gene mutation, Gastroenterology, Short stature, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Internal medicine, medicine, Humans, Child, Retrospective Studies, Splice site mutation, FBP1, business.industry, lcsh:RJ1-570, DNA Helicases, RNA-Binding Proteins, lcsh:Pediatrics, Metabolic acidosis, medicine.disease, DNA-Binding Proteins, 030104 developmental biology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Acidosis, business, 030217 neurology & neurosurgery, Urine organic acids
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3
المؤلفون: Maya, Zahid, Aysha Habib, Khan, Zabedah Md, Yunus, Bee Chin, Chen, Beat, Steinmann, Haberle, Johannes, Bushra, Afroze
المصدر: JPMA. The Journal of the Pakistan Medical Association. 69(3)
مصطلحات موضوعية: Male, Hyperglycinemia, Nonketotic, Infant, Newborn, Brain, Infant, Magnetic Resonance Imaging, Pyruvate Carboxylase Deficiency Disease, Diagnosis, Differential, Radiography, Tertiary Care Centers, Hypoxia-Ischemia, Brain, Humans, Female, Pakistan, Zellweger Syndrome, Metal Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::96bb2ac83c4dfcbf073308683246477b
https://pubmed.ncbi.nlm.nih.gov/30890842 -
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المؤلفون: Lua Seok Hian, Bushra Afroze, Sana Durrani, Yusnita Yakob, Bee Chin Chen
مصطلحات موضوعية: 0303 health sciences, Mutation, business.industry, 030305 genetics & heredity, Disease, medicine.disease, medicine.disease_cause, Deoxyuridine, Cachexia, 03 medical and health sciences, chemistry.chemical_compound, Exon, 0302 clinical medicine, chemistry, Pediatrics, Perinatology and Child Health, medicine, Cancer research, Thymidine phosphorylase, business, Novel mutation, Gene, 030217 neurology & neurosurgery, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c78baeec59bd1416bd5eb7b26858a0
https://europepmc.org/articles/PMC6375719/ -
5
المؤلفون: Ivan McGown, Wee Teik Keng, Shanti Balasubramaniam, J. Patrick O'Neill, John A. Duley, Gaik Siew Ch’ng, Bee Chin Chen, Lock Hock Ngu
المصدر: Brain and Development. 36:593-600
مصطلحات موضوعية: Male, Purine, Oncology, Inosine monophosphate, S-Adenosylmethionine, medicine.medical_specialty, Adolescent, Lesch-Nyhan Syndrome, chemistry.chemical_compound, Developmental Neuroscience, Internal medicine, medicine, Humans, Hyperuricemia, Child, Adenylosuccinate lyase deficiency, Genetics, Dystonia, Arts syndrome, business.industry, Malaysia, Infant, General Medicine, medicine.disease, Pedigree, Aggression, chemistry, Purines, Hypoxanthine-guanine phosphoribosyltransferase, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Self-Injurious Behavior, Hypoxanthine Phosphoribosyltransferase
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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: André B.P. van Kuilenburg, Rutger Meinsma, Raoul C.M. Hennekam, Rowani Mohd Rawi, Bee Chin Chen, Judith Meijer
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics
المصدر: Molecular syndromology, 5(6), 299-303. S. Karger AG
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Creatinine, business.industry, Short Report, medicine.disease, Hypotonia, Dihydropyrimidine dehydrogenase deficiency, chemistry.chemical_compound, Dysgenesis, Endocrinology, chemistry, Internal medicine, Genetics, medicine, Dihydropyrimidine dehydrogenase, Cerebellar atrophy, DPYD, medicine.symptom, business, Genetics (clinical)
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المؤلفون: Winnie Peitee Ong, Bee-Chin Chen, Ke-Juin Wong, Ho-Torng Hsu, Zabedah Md Yunus, Anasufiza Habib, James Pitt, Lock-Hock Ngu, Gaik-Siew Ch’ng, Nor Azimah Abdul Azize
المصدر: European Journal of Pediatrics. 172:1277-1281
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Arginine, Diamino acid, chemistry.chemical_compound, Internal medicine, Citrulline, Humans, Point Mutation, Medicine, Genetic Testing, Amino Acid Metabolism, Inborn Errors, Homocitrulline, chemistry.chemical_classification, business.industry, Fusion Regulatory Protein 1, Light Chains, Malaysia, Amino Acid Transport System y+L, Ornithine, medicine.disease, Lysinuric protein intolerance, Amino acid, Glutamine, Endocrinology, chemistry, Biochemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, business, Biomarkers
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المؤلفون: Bee Chin Chen, Lock Hock Ngu, Ivan McGown, John A. Duley, Teck Beng Khoo, Meow-Keong Thong, Zabedah Mohd Yunus, James Pitt
المصدر: Journal of inherited metabolic disease. 33
مصطلحات موضوعية: Male, Myoclonus, medicine.medical_specialty, Microcephaly, Heterozygote, Purine-Pyrimidine Metabolism, Inborn Errors, Spectrometry, Mass, Electrospray Ionization, Adenosine, Myoclonic Jerk, DNA Mutational Analysis, Gene mutation, Compound heterozygosity, Child Development, Predictive Value of Tests, Seizures, Tandem Mass Spectrometry, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Global developmental delay, Genetic Testing, Autistic Disorder, Adenylosuccinate lyase, Genetics (clinical), Chromatography, High Pressure Liquid, Adenylosuccinate lyase deficiency, Psychomotor retardation, business.industry, Adenylosuccinate Lyase, Infant, Newborn, Malaysia, Infant, medicine.disease, Aminoimidazole Carboxamide, Adenosine Monophosphate, Endocrinology, Phenotype, Mutation, Ribonucleosides, medicine.symptom, Psychomotor Disorders, business, Biomarkers, Psychomotor Performance