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Phenylketonuria: Our Experience in Nine Years at a Tertiary-level Referral Institute

INTRODUCTION: Phenyl ketonuria is an inborn error of amino acid metabolism resulting in excessive phenyl alanine levels in blood resulting in a spectrum of neurological defects. PATIENTS AND METHODS: We retrospectively went through the records of patients diagnosed as Phenyl ketonuria in the last ni...

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Detalles Bibliográficos
Autores principales: Chandra, Sadanandvalli R., Christopher, Rita, Daryappa, Mane M., Devaraj, Rashmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982494/
https://www.ncbi.nlm.nih.gov/pubmed/29899773
http://dx.doi.org/10.4103/JPN.JPN_177_17