Cargando…
Phenylketonuria (PKU): A problem solved?
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities. The National PKU Alliance (NPKUA) conduc...
Autores principales: | Brown, Christine S., Lichter-Konecki, Uta |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789336/ https://www.ncbi.nlm.nih.gov/pubmed/27014571 http://dx.doi.org/10.1016/j.ymgmr.2015.12.004 |
Ejemplares similares
-
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
por: Sperb-Ludwig, F., et al.
Publicado: (2014) -
Effects of intracerebroventricular administration of 2-hydroxypropyl-β-cyclodextrin in a patient with Niemann–Pick Type C disease
por: Matsuo, Muneaki, et al.
Publicado: (2014) -
Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
por: de Alencar, Dayse Oliveira, et al.
Publicado: (2014) -
Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
por: Patel, Pravin, et al.
Publicado: (2014) -
Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
por: Sheth, Jayesh, et al.
Publicado: (2014)