Cargando…
Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry
Autores principales: | Kenneson, Aileen, Osara, Yetsa, Pringle, Theresa, Youngborg, Lauren, Singh, Rani H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047058/ https://www.ncbi.nlm.nih.gov/pubmed/30023285 http://dx.doi.org/10.1016/j.ymgmr.2018.01.001 |
Ejemplares similares
-
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders
por: Osara, Yetsa, et al.
Publicado: (2017) -
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)