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Year Number of Results
2019 16
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2024 7

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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. Strauss KA, et al. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) …
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase …
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR. Deon M, et al. Int J Dev Neurosci. 2023 Oct;83(6):489-504. doi: 10.1002/jdn.10283. Epub 2023 Jun 20. Int J Dev Neurosci. 2023. PMID: 37340513 Review.
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well a …
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid …
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T, Lu D, Xu F, Ji W, Zhan X, Gao X, Qiu W, Zhang H, Liang L, Gu X, Han L. Chen T, et al. Clin Chim Acta. 2023 Aug 1;548:117483. doi: 10.1016/j.cca.2023.117483. Epub 2023 Jul 6. Clin Chim Acta. 2023. PMID: 37421976
BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease for which newborn screening (NBS) is feasible but not universally applied in China. ...
BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease for which newborn screening (NBS) is feasible but …
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. Al Shidhani A, et al. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):302-306. doi: 10.4274/jcrpe.galenos.2021.2021.0173. Epub 2021 Nov 5. J Clin Res Pediatr Endocrinol. 2023. PMID: 34738771 Free PMC article.
Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges to the already complex management. ...
Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine dise …
Neonatal maple syrup urine disease case report and literature review.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L. Liu Q, et al. Medicine (Baltimore). 2022 Dec 16;101(50):e32174. doi: 10.1097/MD.0000000000032174. Medicine (Baltimore). 2022. PMID: 36550798 Free PMC article. Review.
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. ...
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous sys …
Maple Syrup Urine Disease.
Lai B, Zhong J. Lai B, et al. Radiology. 2024 Jan;310(1):e232039. doi: 10.1148/radiol.232039. Radiology. 2024. PMID: 38193837 No abstract available.
3.19 Inborn Errors of Metabolism.
Maier EM, Dokoupil K. Maier EM, et al. World Rev Nutr Diet. 2022;124:351-361. doi: 10.1159/000516735. Epub 2022 Mar 3. World Rev Nutr Diet. 2022. PMID: 35240634 Review. No abstract available.
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Xu J, Jakher Y, Ahrens-Nicklas RC. Xu J, et al. Int J Mol Sci. 2020 Oct 11;21(20):7490. doi: 10.3390/ijms21207490. Int J Mol Sci. 2020. PMID: 33050626 Free PMC article. Review.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). ...
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched …
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB, Silva WA Jr, Garcia DF, de Molfetta GA, Marques AA, Amorim T, Prazeres VMG, Boy da Silva RT, Miura IK, Seda Neto J, Santos ES, Santos MLSF, Lourenço CM, Tonon T, Sperb-Ludwig F, de Souza CFM, Schwartz IVD, Camelo JS Jr. Margutti AVB, et al. Orphanet J Rare Dis. 2020 Nov 1;15(1):309. doi: 10.1186/s13023-020-01590-7. Orphanet J Rare Dis. 2020. PMID: 33131499 Free PMC article.
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. ...
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by def …
81 results