| Tài liệu tham khảo |
Loại |
Chi tiết |
| 1. Mirzaee, N. Pishva, Z. Karamizadeh, et al., A classic case of maple syrup urine disease and a novel mutation in the BCKDHA gene, Iran J Neonatol, 2017, 8, 72-74 |
Sách, tạp chí |
| Tiêu đề: |
A classic case of maple syrup urine disease and a novel mutation in the BCKDHA gene |
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| 2. K.A. Strauss, V.J. Carson, K. Soltys, et al., Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes, Mol Genet Metab, 2020, 129(3), 193-206 |
Sách, tạp chí |
| Tiêu đề: |
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes |
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| 3. J.E. Sperringer, A. Addington, S.M. Hutson, Branched-Chain Amino Acids and Brain Metabolism, Neurochem Res, 2017, 42(6), 1697-1709 |
Sách, tạp chí |
| Tiêu đề: |
Branched-Chain Amino Acids and Brain Metabolism |
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| 4. P.R. Blackburn, J. M. Gass, F. P. E. Vairo, et al., Maple syrup urine disease: mechanisms and management, Appl Clin Genet, 2017, 10, 57-66 |
Sách, tạp chí |
| Tiêu đề: |
Maple syrup urine disease: "mechanisms and management |
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| 5. G. Liu, D. Ma, P. Hu, et al., A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease, Front Genet, 2018, 145-154 |
Sách, tạp chí |
| Tiêu đề: |
A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease |
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| 6. S.C. Quinonez, S.M. Leber, D.M. Martin, et al., Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency, Pediatr Neurol, 2013, 48(1), 67-72 |
Sách, tạp chí |
| Tiêu đề: |
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency |
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| 7. D.J. Danner, C.B. Doering, Human Mutation Affecting Branched Chain α Ketoacid Dehdrogenase, Front Biosci, 1998, 517-524 |
Sách, tạp chí |
| Tiêu đề: |
Human Mutation Affecting Branched Chain α Ketoacid Dehdrogenase |
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| 8. D.H. Morton, K.A. Strauss, D.L. Robinson, et al., Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients, Pediatrics, 2002, 109, 999-1008 |
Sách, tạp chí |
| Tiêu đề: |
Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients |
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| 9. J.L. Chuang, R.M. Wynn, C.C. Moss, et al., Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients:a proposed mechanism for the thiamin-responsive phenotype, J Biol Chem, 2004, 279(17), 17792-17800 |
Sách, tạp chí |
| Tiêu đề: |
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: "a proposed mechanism for the thiamin-responsive phenotype |
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| 10. C.L. Silao, C.D. Padilla, M. Matsuo, A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease, Mol Genet Metab, 2004, 81(2), 100-104 |
Sách, tạp chí |
| Tiêu đề: |
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease |
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| 11. P. Rodriguez-Pombo, R. Navarrete, B. Merinero, et al., Mutational spectrum of maple syrup urine disease in Spain, Hum Mutat, 2006, 27(7), 715-728 |
Sách, tạp chí |
| Tiêu đề: |
Mutational spectrum of maple syrup urine disease in Spain |
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| 12. N. Flaschker, O. Feyen, S. Fend, et al., Description of the mutations in 15 subjects with variant forms of maple syrup urine disease, J Inherit Metab Dis, 2007, 30(6), 903-909 |
Sách, tạp chí |
| Tiêu đề: |
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease |
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| 13. J.Y. Lee, M.A. Chiong, S.C. Estrada, et al., Maple syrup urine disease (MSUD)-clinical profile of 47 Filipino patients, J Inherit Metab Dis, 2008, 31, 281-285 |
Sách, tạp chí |
| Tiêu đề: |
Maple syrup urine disease (MSUD)-clinical profile of 47 Filipino patients |
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| 14. R. Fingerhut, E. Simon, E.M. Maier, et al., Maple Syrup Urine Disease: Newborn Screening Fails to Discriminate between Classic and Variant Forms, Clin Chem, 2008, 54(10), 1739-1741 |
Sách, tạp chí |
| Tiêu đề: |
Maple Syrup Urine Disease: "Newborn Screening Fails to Discriminate between Classic and Variant Forms |
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| 15. K. Gorzelany, A. Dursun, T. Coskun, et al., Molecular genetics of maple syrup urine disease in the Turkish population, Turk J Pediatr Dis, 2009, 51(2), 97- 102 |
Sách, tạp chí |
| Tiêu đề: |
Molecular genetics of maple syrup urine disease in the Turkish population |
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| 16. R. Tammachote, S. Tongkobpetch, T. Desudchit, et al., Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease, J Inherit Metab Dis, 2009, 32, 33-36 |
Sách, tạp chí |
| Tiêu đề: |
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease |
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| 17. T. Georgiou, J.L. Chuang, R.M. Wynn, et al., Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit, Genet Test Mol Biomark, 2009, 13(5), 657-664 |
Sách, tạp chí |
| Tiêu đề: |
Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit |
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| 18. S. Quental, A. Gusmao, P. Rodriguez-Pombo, et al., Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene, Ann Hum Genet, 2009, 73, 298-303 |
Sách, tạp chí |
| Tiêu đề: |
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene |
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| 19. S. Quental, L.Vilarinho, E. Martins, et al., Incidence of maple syrup urine disease in Portugal, Mol Genet Metab, 2010, 100(4), 385-387 |
Sách, tạp chí |
| Tiêu đề: |
Incidence of maple syrup urine disease in Portugal |
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| 20. E. Brodtkorb, J. Strand, P.H. Backe, et al., Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation, Mol Genet Metab, 2010, 100(4), 324-332 |
Sách, tạp chí |
| Tiêu đề: |
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation |
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