المؤلفون: Bushra Afroze, Laila Lakhani, Farah Naz, Sana Somani, Zabedah Md. Yunus, Nick Brown

المصدر: Egyptian Journal of Medical Human Genetics, Vol 17, Iss 3, Pp 259-264 (2016)

مصطلحات موضوعية: Inherited metabolic disorders, Pakistan, Treatment, Antenatal testing, Newborn screening, Cascade screening, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1110863016300027; https://doaj.org/toc/1110-8630

URL الوصول: https://doaj.org/article/8bd1d1440c054572b89a22235ead1f96

المؤلفون: Affandi Omar, Noornatisha Salleh, Siti Rozilah Abdul Kadir, Nur Jannaim Muhamad, Fatimah Diana Amin Nordin, R. Mohamed, Marleena Mamat, Balqis Kamarudin, Zabedah Md Yunus, Julaina Abdul Jalil, Salina Abdul Rahman

المصدر: Jurnal Sains Kesihatan Malaysia. 19:22-28

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Total homocysteine, business.industry, Internal medicine, medicine, Reference range, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e73fc3493e4aafd45fc413e78b76d5c7
https://doi.org/10.17576/jskm-2021-1902-03

المؤلفون: Siti Aishah Abdul Wahab, Yusnita Yakob, Nor Azimah Abdul Azize, Zabedah Md Yunus, Leong Huey Yin, Mohd Khairul Nizam Mohd Khalid, Ngu Lock Hock

المصدر: BioMed Research International, Vol 2016 (2016)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2016/4074365; https://doaj.org/toc/2314-6133; https://doaj.org/toc/2314-6141; https://doaj.org/article/6d4d86bbf45f4ae9bb988076e1d4b49d

الاتاحة: https://doi.org/10.1155/2016/4074365
https://doaj.org/article/6d4d86bbf45f4ae9bb988076e1d4b49d

المؤلفون: Affandi Omar, Siti Rozilah Abdul Kadir, Salina Abdul Rahman, Fatimah Diana Amin Nordin, Balqis Kamarudin, Nur Jannaim Muhamad, Rosnani Mohamed, Marleena Mamat, Noornatisha Salleh, Zabedah Md Yunus, Julaina Abdul Jalil

وصف الملف: application/pdf

Relation: http://journalarticle.ukm.my/18582/1/40545-160179-1-PB.pdf; Affandi Omar, and Siti Rozilah Abdul Kadir, and Salina Abdul Rahman, and Fatimah Diana Amin Nordin, and Balqis Kamarudin, and Nur Jannaim Muhamad, and Rosnani Mohamed, and Marleena Mamat, and Noornatisha Salleh, and Zabedah Md Yunus, and Julaina Abdul Jalil, (2021) Julat rujukan bagi jumlah homosisteina dalam plasma di kalangan kanak-kanak di Malaysia. Jurnal Sains Kesihatan Malaysia, 19 (2). pp. 22-28. ISSN 1675-8161

الاتاحة: http://journalarticle.ukm.my/18582/
http://journalarticle.ukm.my/18582/1/40545-160179-1-PB.pdf
https://ejournal.ukm.my/jskm/issue/view/1355

المؤلفون: Lock Hock Ngu, Julaina Abdul Jalil, Affandi Omar, Zabedah Md Yunus, Norashareena M. Shakrin

المصدر: Data in Brief, Vol 25, Iss, Pp-(2019)
Data in Brief

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Multidisciplinary, High risk patients, Patient registered, business.industry, Mucopolysaccharidosis, High resolution, Diagnostic evaluation, Demographic data, medicine.disease, lcsh:Computer applications to medicine. Medical informatics, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Biochemistry, Genetics and Molecular Biology, Medicine, Substrate specificity, lcsh:R858-859.7, business, lcsh:Science (General), 030217 neurology & neurosurgery, 030304 developmental biology, lcsh:Q1-390

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68933e77d4ac5600be49e0ceabcafc86
http://www.sciencedirect.com/science/article/pii/S2352340919307310

المؤلفون: Lock Hock Ngu, Zabedah Md Yunus, Julaina Abdul Jalil, Affandi Omar, Norashareena M. Shakrin

المصدر: Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Urinary system, Hepatosplenomegaly, Urine, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Clinical history, Internal medicine, Genetics, medicine, In patient, Molecular Biology, lcsh:QH301-705.5, Whole blood, Glycosaminoglycans, 0303 health sciences, lcsh:R5-920, business.industry, Mucolipidosis, 030305 genetics & heredity, Organ dysfunction, Mucopolysaccharidoses, Fluorometric enzyme assays, medicine.disease, High resolution electrophoresis, lcsh:Biology (General), medicine.symptom, Lysosomal, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb90f521316f677ea575a59585ab56cd
http://www.sciencedirect.com/science/article/pii/S2214426918301149

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

المؤلفون: Yusnita Yakob, Ernie Zuraida Ali, Kartikasalwah Abd Latif, Chen Bee Chin, Mohd Khairul Nizam Mohd Khalid, Ngu Lock Hock, Zabedah Md Yunus

المصدر: European Journal of Pediatrics. 175:339-346

مصطلحات موضوعية: Male, 0301 basic medicine, Enzyme complex, medicine.medical_specialty, Carbamoyl-Phosphate Synthase I Deficiency Disease, Carbamoyl-Phosphate Synthase (Ammonia), medicine.disease_cause, 03 medical and health sciences, Asian People, Ammonia, Internal medicine, medicine, Humans, Hyperammonemia, Missense mutation, Computer Simulation, Decompensation, Genetic Testing, Genetics, Mutation, business.industry, Infant, Newborn, Malaysia, Carbamoyl phosphate synthetase, medicine.disease, Magnetic Resonance Imaging, Stop codon, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d21df20544961fb47c2d57d06f9621
https://doi.org/10.1007/s00431-015-2644-z

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e4c83199fb798de6933173662068179
https://doi.org/10.1007/s00431-013-1947-1

المؤلفون: Wee Teik Keng, Lock Hock Ngu, Yew Sing Choy, Salina Abdul Rahman, Zabedah Md Yunus

المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 29(9)

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Pilot Projects, Tandem mass spectrometry, 03 medical and health sciences, Endocrinology, Neonatal Screening, Tandem Mass Spectrometry, Medicine, Humans, Ethylmalonic aciduria, Newborn screening, business.industry, Maple syrup urine disease, Infant, Newborn, Malaysia, nutritional and metabolic diseases, medicine.disease, Prognosis, Dried blood spot, 030104 developmental biology, Argininosuccinic aciduria, Methylmalonic aciduria, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, Female, business, Metabolism, Inborn Errors, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a50fdbf7ca0e511313a51b7810332d
https://pubmed.ncbi.nlm.nih.gov/27544719

المؤلفون: Yusnita Yakob, Nor Azimah Abdul Azize, Ngu Lock Hock, Siti Aishah Abdul Wahab, Zabedah Md Yunus, Mohd Khairul Nizam Mohd Khalid, Leong Huey Yin

المصدر: BioMed Research International, Vol 2016 (2016)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Splice site mutation, General Immunology and Microbiology, Article Subject, Nonsense mutation, Metabolic disorder, lcsh:R, lcsh:Medicine, General Medicine, Glutaric aciduria type 1, Disease, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genotype-phenotype distinction, medicine, Missense mutation, Gene, 030217 neurology & neurosurgery

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ede9ee081dc218540f18e8984cc8e1
https://doaj.org/article/6d4d86bbf45f4ae9bb988076e1d4b49d

المؤلفون: Wan Zurinah Wan Ngah, Ngu Lock-Hock, Teh S iao Hean, Anand Mohan, Norsiah Md Desa, Zulhabri Othman, Zabedah Md Yunus, Nor Azimah Abdul Azize, Syed Zulkifli Syed Zakaria, Chen B ee Chin

المصدر: Journal of human genetics. 59(11)

مصطلحات موضوعية: Male, Hyperglycinemia, Genotype, Hyperglycinemia, Nonketotic, DNA Mutational Analysis, Biology, Glycine encephalopathy, medicine.disease_cause, Glycine Decarboxylase Complex H-Protein, GCSH, Genetics, medicine, Missense mutation, Aminomethyltransferase, Humans, Genetic Predisposition to Disease, Genetics (clinical), Family Health, Mutation, Glycine cleavage system, Base Sequence, Infant, Newborn, medicine.disease, Glycine Dehydrogenase (Decarboxylating), Molecular biology, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9041a164285032770e0d1800f0f70ea
https://pubmed.ncbi.nlm.nih.gov/25231368

المؤلفون: Bushra Afroze, René Santer, Zabedah Md Yunus, Beat Steinmann

المساهمون: University of Zurich, Afroze, Bushra

المصدر: European journal of pediatrics. 172(9)

مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, Genetic Markers, Male, medicine.medical_specialty, Fructose 1,6-bisphosphatase, Mutation, Missense, India, 610 Medicine & health, Internal medicine, medicine, Humans, Pakistan, 2735 Pediatrics, Perinatology and Child Health, Genetic Testing, Triglycerides, Hypertriglyceridemia, biology, business.industry, FBP1, Homozygote, DNA Helicases, Infant, RNA-Binding Proteins, Metabolic acidosis, medicine.disease, Ketotic hypoglycemia, DNA-Binding Proteins, Endocrinology, Gluconeogenesis, 10036 Medical Clinic, Lactic acidosis, Child, Preschool, Pediatrics, Perinatology and Child Health, Acute Disease, biology.protein, business, Biomarkers, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f862adf21a15776546d02dd4ac982f3
https://pubmed.ncbi.nlm.nih.gov/23881342

المؤلفون: Zabedah Md Yunus, Norsiah Md Desa, Ernie Zuraida Ali, Ngu Lock Hock

المصدر: Journal of Pediatric Endocrinology and Metabolism. 26

مصطلحات موضوعية: Models, Molecular, Parents, Heterozygote, Endocrinology, Diabetes and Metabolism, Mutation, Missense, BCKDHB, BCKDHA, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Consanguinity, Exon, Endocrinology, Maple Syrup Urine Disease, Humans, Medicine, Missense mutation, Genetics, Protein Stability, business.industry, Maple syrup urine disease, Homozygote, Infant, Newborn, Malaysia, Exons, medicine.disease, Protein Subunits, Amino Acid Substitution, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation testing, Female, Isoleucine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1d2ce87a5ebe15c60691c4b18685797
https://doi.org/10.1515/jpem-2012-0424

المؤلفون: Chew, Hui Bein, Ngu, Lock Hock, Zabedah, Md Yunus, Keng, Wee Teik, Balasubramaniam, Shanti, Hanifah, Mohd Jamil M., Kobayashi, Keiko

المصدر: Journal of Inherited Metabolic Disease ; volume 33, issue S3, page 489-495 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-010-9248-6
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-010-9248-6

المؤلفون: Azize, Nor Azimah, Zabedah Md Yunus, Desa, Norsiah M.d, Hock, Ngu Lock, Rahman, Suhaila Abd

المصدر: Malaysian Journal of Pathology; Jun2010, Vol. 32 Issue 1, p35-42, 8p

المؤلفون: Lock Hock Ngu, Zabedah, Md Yunus, Shanti, Balasubramaniam, Siao Hean Teh

المصدر: Malaysian Journal of Pathology; Dec2008, Vol. 30 Issue 2, p109-114, 6p