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名词信息
中 文 名:
枫糖尿病
英 文 名:
maple syrup urine disease
中文又称:
经典型枫糖尿病
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
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
Inflammation in maple syrup urine disease.
Böttcher AK, Tedesco L, Dos Reis BG, Lopes FF, Tonelotto D, Wailer LR, Vargas CR.
Clin Chim Acta. 2026 Jan 30;580:120755. doi: 10.1016/j.cca.2025.120755. Epub 2025 Nov 30.
PMID:41330459
Maple-syrup-urine disease.
Wendel U, Lombeck I, Bremer HJ.
N Engl J Med. 1983 May 5;308(18):1100-1. doi: 10.1056/nejm198305053081816.
PMID:6835327
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.
Shih VE.
N Engl J Med. 1984 Mar 1;310(9):596-7. doi: 10.1056/nejm198403013100916.
PMID:6694715
[Maple syrup urine disease].
Matsumura R.
Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):393-4.
PMID:11031979
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
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