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(maple syrup urine disease)
1,395 results
  • Case report: maple syrup urine disease with a novel DBT gene mutation. [Journal Article]
    BMC Pediatr 2019; 19(1):494Feng W, Jia J, … Tian Q
  • CONCLUSIONS: The mutation c.1132C > T (p.378X) is a novel DBT gene mutation that is associated with MSUD and always has mild clinical manifestations. After timely BCAA-free nutrition and supplementation with thiamine for the patient, the plasma levels of BCAAs reached a safe level, the abnormal range of the multiple intracranial abnormalities was significantly smaller than before, and the symptoms of drowsiness and poor appetite disappeared.
  • The risk of malnutrition in children with autism spectrum disorder. [Journal Article]
    Arch Dis Child Educ Pract Ed 2019Healy LI, Forbes E, … Crushell E
  • A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating only corn-crisps, Rich Tea biscuits and chips (French fries), and drinking Coca-Cola (containing 1…
  • Acute exposure to leucine modifies behavioral parameters and cholinergic activity in zebrafish. [Journal Article]
    Int J Dev Neurosci 2019; 78:222-226Wessler LB, Farias HR, … Streck EL
  • Maple Syrup Urine Disease (MSUD) is an autosomal recessive inherited disorder, caused by a deficiency on branched chain α-ketoacid dehydrogenase complex activity, resulting in accumulation of branched-chain amino acids (BCAA) (e.g. leucine). The treatment of MSDU patients increases survival time and quality of life. Thus, nowadays there are a crescent number of adolescents and adults with MSUD. R…
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