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1دورية أكاديمية
المؤلفون: Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Pancreatitis, Diabetes mellitus, Inborn errors of metabolism, Methylmalonic aciduria, Propionic acidemia, Newborn screening, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2
المؤلفون: Jin Myoung Seok, Jin-Hong Shin, Jin-Sung Park, Jung-Joon Sung, Sook Za Kim, Dae-Seong Kim, Jung Hwan Lee, Young-Eun Park, Young Chul Choi, Kwang-Kuk Kim, Byoung Joon Kim, Tai-Seung Nam
المصدر: Journal of the Korean Neurological Association. 39:75-81
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, Late onset, Disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Medicine, Population screening, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d9f5a9bee6ce9b824a7b5fd32a9868a5
https://doi.org/10.17340/jkna.2021.2.3 -
3دورية أكاديمية
المؤلفون: Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
المصدر: Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S45-S48 (2016)
مصطلحات موضوعية: Acyl CoA dehydrogenase, Neonatal screening, Infant, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4
المؤلفون: Yong Wook Lee, Mea-young Chang, Han-Wook Yoo, Gu-Hwan Kim, Han Hyuk Lim, Sook Za Kim, Yoo-Mi Kim, Mi Hyeon Gang, Jung Min Ko
المصدر: Journal of Genetic Medicine. 16:85-89
مصطلحات موضوعية: chemistry.chemical_compound, Pediatrics, medicine.medical_specialty, HHH SYNDROME, chemistry, business.industry, Medicine, Ornithine, business, Hyperornithinemia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9f12e5a274dbec797fc73665a4f2d342
https://doi.org/10.5734/jgm.2019.16.2.85 -
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المؤلفون: Yoo-Mi Kim, Wung Joo Song, Han Hyuk Lim, Sook-Za Kim, Jae Young Kim, Harvey L. Levy, Mea Young Chang, Woo Jin Hwang, Hong Ryang Kil
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)مصطلحات موضوعية: Adult, Newborn screening, medicine.medical_specialty, Propionic Acidemia, Adolescent, Diabetic ketoacidosis, lcsh:Medicine, Review, Inborn errors of metabolism, Gastroenterology, Fatty acid oxidation disorder, Pathogenesis, 03 medical and health sciences, Diabetes mellitus, 0302 clinical medicine, Recurrent pancreatitis, 030225 pediatrics, Internal medicine, Republic of Korea, Humans, Medicine, Pharmacology (medical), 030212 general & internal medicine, Propionic acidemia, Child, Amino Acid Metabolism, Inborn Errors, Pancreas, Genetics (clinical), Methylmalonic aciduria, Hyperornithinemia, business.industry, lcsh:R, General Medicine, medicine.disease, medicine.anatomical_structure, Pancreatitis, Female, Acidosis, business
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6
المؤلفون: Youngbae Kim, Man-Jeong Paik, Chan Seo, Hyeon-Seong Lee, Sook Za Kim
المصدر: Analytical Letters. 51:793-806
مصطلحات موضوعية: 0301 basic medicine, Chromatography, Chemistry, Biochemistry (medical), Clinical Biochemistry, Relative standard deviation, Repeatability, Mass spectrometry, Biochemistry, Analytical Chemistry, 03 medical and health sciences, 030104 developmental biology, Human plasma, Electrochemistry, Hydroxy fatty acid, Gas chromatography–mass spectrometry, Spectroscopy
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7
المؤلفون: Jung Hwan Lee, Hyung Jun Park, Hye Kyoung Kim, Young Chul Choi, Young Mi Jeon, Jin Hong Shin, Dae Seong Kim, Sook Za Kim
المصدر: Neuromuscular Disorders. 27:550-556
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Weakness, Late onset, Disease, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Internal medicine, Republic of Korea, medicine, Humans, Prospective Studies, Allele, Myopathy, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, alpha-Glucosidases, Surgery, Dried blood spot, Neurology, Pediatrics, Perinatology and Child Health, Pseudodeficiency alleles, Acid alpha-glucosidase, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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8
المؤلفون: Sook Za Kim, Se Jin An, Han Wook Yoo, Gu-Hwan Kim, Han Hyuk Lim
المصدر: Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S45-S48 (2016)
Korean Journal of Pediatricsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Dehydrogenase, Case Report, Compound heterozygosity, Pediatrics, Asymptomatic, ACADS, 03 medical and health sciences, Exon, Internal medicine, medicine, Gene, Genetics, Newborn screening, biology, business.industry, lcsh:RJ1-570, Acyl CoA dehydrogenase, Infant, lcsh:Pediatrics, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, business, Neonatal screening
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8fabd7a6c548f78bed0b84c13074d4
http://kjp.or.kr/upload/pdf/kjped-59-S45.pdf -
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المؤلفون: Yongwook Lee, Sook-Za Kim, Wungjoo Song, Mihyeon Gang, Mea-young Chang
المصدر: Perinatology. 30:147
مصطلحات موضوعية: education.field_of_study, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, Polydactyly, business.industry, Population, General Medicine, medicine.disease, VACTERL association, Congenital hypothyroidism, Postaxial foot polydactyly, Medicine, Small for gestational age, business, education, Preaxial hand polydactyly
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57137cc7c9333bf3ba9de20c75bd7372
https://doi.org/10.14734/pn.2019.30.3.147 -
10دورية أكاديمية
المؤلفون: Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
المصدر: Korean Journal of Pediatrics; 2016, Vol. 59 Issue Suppl1, pS45-S48, 4p
مصطلحات موضوعية: DIAGNOSIS of neonatal diseases, ACYL coenzyme A