Maple syrup urine disease in Brazil: a panorama of the last two decades

Herber, Silvani; Schwartz, Ida Vanessa D.; Nalin, Tatiéle; Netto, Cristina Brinkmann Oliveira; Camelo Junior, José Simon; Santos, Mara Lúcia; Ribeiro, Erlane Marques; Schüler-Faccini, Lavinia; Souza, Carolina Fischinger Moura de.
J. pediatr. (Rio J.) ; 91(3): 292-298, May-Jun/2015. tab, graf
Artículo en Inglés | LILACS | ID: lil-752410

Documentos relacionados

  1. The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.
  2. Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
  3. Exposure to leucine alters glutamate levels and leads to memory and social impairment in zebrafish.
  4. Analysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD.
  5. [Genetic analysis of two Chinese families with maple syrup urine disease].
  6. [Progress of research on Maple syrup disease].
  7. Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
  8. Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
  9. Changes in branched-chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report.
  10. Successful treatment of severe MSUD in Bckdhb<sup>-/-</sup> mice with neonatal AAV gene therapy.