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maple syrup urine disease 相关文献:
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH.
Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16.
PMID:31980395
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH.
Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17.
PMID:24881969
Neonatal maple syrup urine disease case report and literature review.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L.
Medicine (Baltimore). 2022 Dec 16;101(50):e32174. doi: 10.1097/MD.0000000000032174.
PMID:36550798
Maple Syrup Urine Disease.
Lai B, Zhong J.
Radiology. 2024 Jan;310(1):e232039. doi: 10.1148/radiol.232039.
PMID:38193837
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Al Shidhani A, Al Hinai A, Al Thihli K, Al Mandhari H, Al Yaarubi S, Ullah I, Al-Hashmi N, Al Murshedi F.
J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):302-306. doi: 10.4274/jcrpe.galenos.2021.2021.0173. Epub 2021 Nov 5.
PMID:34738771
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F.
J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27.
PMID:34187135
Maple syrup urine disease: magnetic resonance imaging findings in three patients.
Allahwala A, Ahmed S, Afroze B.
J Pak Med Assoc. 2021 Apr;71(4):1309-1313. doi: 10.47391/JPMA.1341.
PMID:34125801
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Xu J, Jakher Y, Ahrens-Nicklas RC.
Int J Mol Sci. 2020 Oct 11;21(20):7490. doi: 10.3390/ijms21207490.
PMID:33050626
Maple syrup urine disease: it has come a long way.
Chuang DT.
J Pediatr. 1998 Mar;132(3 Pt 2):S17-23. doi: 10.1016/s0022-3476(98)70523-2.
PMID:9546032
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29.
PMID:39270351
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