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المؤلفون: Kimitoshi Nakamura, Chiemi Hayasaka, Yoko Nakajima, Jun Kido, Shirou Matsumoto, Fumio Endo, Jiro Kagawa, Keitaro Yamada, Eiko Takeshita, Hiroyuki Iijima, Tetsuya Ito
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)مصطلحات موضوعية: Medicine (General), Pediatrics, medicine.medical_specialty, Urea cycle disorder, WAIS, Wechsler Adult Intelligence Scale, QH301-705.5, medicine.medical_treatment, Hyperargininemia, Disease, Liver transplantation, complex mixtures, Epilepsy, R5-920, Endocrinology, Cholestasis, Genetics, medicine, Biology (General), ARG1, Molecular Biology, LT, Liver transplant, business.industry, HPT, Hepaplastin test, UCD, Urea cycle disorder, medicine.disease, Arginase 1 deficiency, Arginase, GAA, Guanidino acetate, CT, Computed tomography, business, NBS, Newborn screening, Research Paper, WISC, Wechsler Intelligence Scale for Children
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المؤلفون: Georg F. Hoffmann, Takeshi Taketani, Naoaki Shibata, Dong Hwan Lee, Seiji Yamaguchi, Nguyen Ngoc Khanh, Toshiyuki Fukao, Yuki Hasegawa, Yosuke Shigematsu, Vu Chi Dung, Ishwar C. Verma, Dau-Ming Niu, Seiji Fukuda, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Sunita Bijarnia-Mahay, Kenji Yamada
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, MS/MS, tandem mass spectrometry, BKTD, β-ketothiolase deficiency, HMGS, 3-hydroxy-3-methylglutaryl-CoA synthetase, PPA, propionic acidemia, HAD, 3-hydoxyacyl-CoA dehydrogenase, Methylmalonic acidemia, MMA, methylmalonic acidemia, TFP, trifunctional protein, SCAD, short-chain acyl-CoA dehydrogenase, Fatty acid oxidation disorder, Expanded newborn screening, NBS, newborn screening, Endocrinology, ENBS, expanded newborn screening, Amino acid disorder, PCD, primary carnitine deficiency, CTLN1, citrullinemia type I, Propionic acidemia, 4-OH-BA, 4-hydroxybutyric acidemia, lcsh:QH301-705.5, Beta oxidation, HCU, homocystinuria, MCD, multiple carboxylase deficiency, lcsh:R5-920, GC/MS, gas chromatography–mass spectrometry, VLCAD, very long-chain acyl-CoA dehydrogenase, Incidence (epidemiology), IMD, inherited metabolic disease, GA2, glutaric acidemia type II, ASA, argininosuccinic aciduria, HMGL, 3-hydroxy-3-methylglutaryl-CoA lyase, CPT2, carnitine palmitoyltransferase II, Organic acidemia, 2-OH-GA, 2-hydroxyglutaric acidemia, lcsh:Medicine (General), LCHAD, long-chain 3-hydroxyacyl-CoA dehydrogenase, Research Paper, medicine.medical_specialty, MGA, 3-methylglutaconic aciduria, PKU, phenylketonuria, AA, amino acid disorder, Incidence rate, GA1, glutaric acidemia type I, 03 medical and health sciences, UCD, urea cycle disorder, Genetics, medicine, CPT1, carnitine palmitoyltransferase I, Inherited metabolic disease, FAOD, fatty acid oxidation disorder, Molecular Biology, MSUD, maple syrup urine disease, Newborn screening, business.industry, Citrullinemia, Maple syrup urine disease, OA, organic acidemia, MCAD, medium-chain acyl-CoA dehydrogenase, medicine.disease, 030104 developmental biology, lcsh:Biology (General), MCCD, 3-methylcrotonyl-CoA carboxylase deficiency, OXPA, 5-oxoprolinemia, business, CACT, carnitine-acylcarnitine translocase
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المؤلفون: Nicola Longo, Bruce F. Scharschmidt, Cynthia Le Mons, Masoud Mokhtarani, Marty Porter, James Bartley, Brendan Lee, Ingrid Rudolph-Angelich, William E. Berquist, George A. Diaz, Debra Hook
المصدر: Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 34-40 (2016)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Calorie, Urea cycle disorder, Phenylbutyrate, WHO, World Health Organization, Urea cycle disorders, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, NaPBA, sodium phenylbutyrate, Internal medicine, Inherited metabolic disorders, UCD, urea cycle disorder, Genetics, medicine, Glycerol phenylbutyrate, Molecular Biology, Dietary management, lcsh:QH301-705.5, lcsh:R5-920, business.industry, medicine.disease, GPB, glycerol phenylbutyrate, Clinical trial, 030104 developmental biology, chemistry, lcsh:Biology (General), RDA, Recommended Daily Allowances, Protein intake, Urea cycle, Healthy individuals, NHANESs, National Health and Nutrition Examination Surveys, OTC, ornithine transcarbamylase, FAO, Food and Agriculture Organization, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper