Miryounesi, M., Ghafouri-Fard, S., Goodarzi, H. & Fardaei, M. A New missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD). J. Pediatr. Endocrinol. Metab. 28, 673–675 (2015).
Google Scholar
Couce, M. L. et al. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. Eur. J. Paediatr. Neurol. 19, 652–659 (2015).
Google Scholar
Pode-Shakked, N. et al. Clues and challenges in the diagnosis of intermittent maple syrup urine disease. Eur. J. Med. Genet. 63, 103901 (2020).
Google Scholar
Axler, O. & Holmquist, P. Intermittent maple syrup urine disease: Two case reports. Pediatrics 133, e458–e460 (2014).
Google Scholar
Scriver, C. R., Clow, C. L. & George, H. So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient. J. Pediatr. 107, 763 (1985).
Google Scholar
Mitsubuchi, H., Owada, M. & Endo, F. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: An implication from clinical and molecular investigations on maple syrup urine disease. J. Nutr. 135, 1565S-1570S (2005).
Google Scholar
Nellis, M. M. et al. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. Mol. Genet. Metab. 80, 189–195 (2003).
Google Scholar
Rodriguez-Pombo, P., Navarrete, R., Merinero, B., Gomez-Puertas, P. & Ugarte, M. Mutational spectrum of maple syrup urine disease in Spain. Hum. Mutat. 27, 715 (2006).
Google Scholar
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754 (2009).
Google Scholar
McKenna, A. et al. The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297 (2010).
Google Scholar
Cingolani, P. et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly 6, 80 (2012).
Google Scholar
Abecasis, G. R. et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061 (2010).
Google Scholar
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
Google Scholar
Scaini, G. et al. Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease. Behav. Brain Res. 231, 92–96 (2012).
Google Scholar
Chace, D. H. et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin. Chem. 41, 62–68 (1995).
Google Scholar
Ali, E. Z. & Ngu, L. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. Mol. Genet. Metab. Rep. 17, 22–30 (2018).
Google Scholar
Georgiou, T. et al. Maple syrup urine disease in cypriot families: Identification of three novel mutations and biochemical characterization of the PThr211Met mutation in the E1alpha subunit. Genet. Test Mol. Biomarkers. 13, 657–664 (2009).
Google Scholar
Love-Gregory, L. D., Grasela, J., Hillman, R. E. & Phillips, C. L. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-mennonite MSUD patients. Mol. Genet. Metab. 75, 79–90 (2002).
Google Scholar
Quental, S. et al. Revisiting MSUD in portuguese gypsies: Evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Ann. Hum. Genet. 73, 298–303 (2009).
Google Scholar
Edelmann, L. et al. Maple syrup urine disease: Identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am. J. Hum. Genet. 69, 863–868 (2001).
Google Scholar
Su, L. et al. Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. Metab. Brain Dis. 32, 765–772 (2017).
Google Scholar
Gupta, D. et al. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. Eur. J. Med. Genet. 58, 471–478 (2015).
Google Scholar
Abiri, M. et al. Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis. Mutat. Res. 786, 34–40 (2016).
Google Scholar
Imtiaz, F. et al. Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease. Mol. Genet. Metab. Rep. 11, 17–23 (2017).
Google Scholar
Li, X. et al. Clinical, biochemical and genetic features of 13 children with maple syrup urine disease. Chin. J. Appl. Clin. Pediatr. 31, 569–572 (2016).
Yang, N. et al. Analysis of gene mutations in chinese patients with maple syrup urine disease. Mol. Genet. Metab. 106, 412–418 (2012).
Google Scholar
Li, X. et al. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. Eur. J. Med. Genet. 58, 617–623 (2015).
Google Scholar
Li, W. et al. Silico analysis of a novel mutation C550delT in a Chinese patient with maple syrup urine disease. Clin. Case Rep. 6, 1989–1993 (2018).
Google Scholar
Liu, G. 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. 9, 145 (2018).
Google Scholar
Li, X. et al. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. Metab. Brain Dis. 33, 741–751 (2018).
Google Scholar
Sun, W. et al. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease. World J. Pediatr. 16, 401–410 (2020).
Google Scholar
Yang, C., Linpeng, S., Cao, Y. & Wu, L. Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening. Gene 710, 9–16 (2019).
Google Scholar
Flaschker, N. et al. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J. Inherit. Metab. Dis. 30, 903–909 (2007).
Google Scholar
Abiri, M. et al. Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. Metab. Brain Dis. 34, 1145–1156 (2019).
Google Scholar
Brodtkorb, E. 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. 100, 324–332 (2010).
Google Scholar
Yang, C. et al. Progress of research on maple syrup disease. Chin. J. Med. Genet. 737, 1–10 (2019).
Chin, H. L. et al. Two consecutive partial liver transplants in a patient with classic maple syrup urine disease. Mol. Genet. Metab. Rep. 4, 49–52 (2015).
Google Scholar
Basturk, A. et al. Liver transplantation from a live donor to a patient with maple syrup urine disease: Two case reports. Turk. Pediatr. Ars. 53, 113–116 (2018).
Google Scholar

