Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s11011-015-9711-z.pdf
Reference14 articles.
1. Axler O, Holmquist P (2014) Intermittent maple syrup urine disease: two case reports. Pediatrics 133(2):e458–60
2. Bindu PS, Shehanaz KE, Christopher R, Pal PK, Ravishankar S (2007) Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India. J Child Neurol 22(7):911–3
3. Bindu PS, Kovoor JM, Christopher R (2010) Teaching NeuroImages: MRI in maple syrup urine disease. Neurology 74(3):516–524
4. Hou JW, Hwang TL (2014) Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan. Pediatr Neonatol 55(3):213–7
5. Jaafar N, Moleirinho A, Kerkeni E et al (2013) Molecular characterization of maple syrup urine disease patients from Tunisia. Gene 517(1):116–119
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1. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease;Journal of Pediatric Endocrinology and Metabolism;2021-12-10
2. Leucinosis, or maple syrup urine disease (lecture and a clinical case);Almanac of Clinical Medicine;2020-10-22
3. Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease;Molecular Medicine Reports;2019-04-05
4. Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease;Clinical Case Reports;2018-09-03
5. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease;Metabolic Brain Disease;2018-01-06
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