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.
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR.
Int J Dev Neurosci. 2023 Oct;83(6):489-504. doi: 10.1002/jdn.10283. Epub 2023 Jun 20.
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.
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.
Maple Syrup Urine Disease.
Lai B, Zhong J.
Radiology. 2024 Jan;310(1):e232039. doi: 10.1148/radiol.232039.
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.
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.
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.
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.
Animal models of maple syrup urine disease.
Skvorak KJ.
J Inherit Metab Dis. 2009 Apr;32(2):229-46. doi: 10.1007/s10545-009-1086-z. Epub 2009 Mar 9.
