Cargando…
Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BCAA)
BACKGROUND: Distinguishing systemic metabolic disruptions in maple syrup urine disease (MSUD) beyond amino acid pathways is under-investigated, yet important to understanding disease pathology and treatment options. METHODS: An adolescent female (15 years) with MSUD without liver transplant, attende...
Autores principales: | Douglas, Teresa D., Newby, L. Kristin, Eckstrand, Julie, Wixted, Douglas, Singh, Rani H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7567947/ https://www.ncbi.nlm.nih.gov/pubmed/33088714 http://dx.doi.org/10.1016/j.ymgmr.2020.100651 |
Ejemplares similares
-
Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry
por: Kenneson, Aileen, et al.
Publicado: (2018) -
Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population
por: Tabbouche, Omar, et al.
Publicado: (2014) -
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population
por: Ali, Ernie Zuraida, et al.
Publicado: (2018) -
Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
por: Chiong, Mary Anne D., et al.
Publicado: (2016) -
A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)
por: Banjar, Haneen Reda
Publicado: (2023)