Cargando…
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan
Japanese newborn screening (NBS) for phenylketonuria (PKU) was initiated in 1977. We surveyed the neurological outcomes of Japanese adult patients with PKU to investigate the long-term effects and of and issues with NBS. Eighty-five patients with PKU aged over 19 years who continued to be treated wi...
Autores principales: | Yamada, Kenji, Yamaguchi, Seiji, Yokoyama, Kazunori, Aoki, Kikumaro, Taketani, Takeshi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167766/ https://www.ncbi.nlm.nih.gov/pubmed/33919983 http://dx.doi.org/10.3390/ijns7020021 |
Ejemplares similares
-
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
por: Yamada, Kenji, et al.
Publicado: (2020) -
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
por: Yamada, Kenji, et al.
Publicado: (2017) -
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
por: Stapleton, Molly, et al.
Publicado: (2020) -
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
por: Bo, Ryosuke, et al.
Publicado: (2020) -
Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis
por: Shokri, Mehdi, et al.
Publicado: (2020)