نتایج جستجو برای: early treated phenylketonuria etpku

تعداد نتایج: 1110023  

2008
Glynis H. Murphy Sally M. Johnson Allayne Amos Eleanor Weetch Rosemary Hoskin Brian Fitzgerald Maggie Lilburn Lesley Robertson Philip Lee

Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those...

In this study, silver nanoparticles were chemically synthesized and deposited on glass substrates using a reducing agent of sucrose, at 50°C. Different characterizations including atomic force microscopy (AFM), field emission scanning electron microscopy (FESEM), and Raman spectroscopy were obtained to study silvery substrates. Then, the silvery substrates were used as the SERS substrates to de...

2016
Denise M Ney Bridget M Stroup Murray K Clayton Sangita G Murali Gregory M Rice Frances Rohr Harvey L Levy

BACKGROUND To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet. The diet restricts intake of Phe from natural proteins in combination with traditional amino acid medical foods (AA-MFs) or glycomacropeptide medical foods (GMP-MFs) that contain primarily intact protein and a small amount of Phe. OBJECTIVE W...

Journal: :Orphanet Journal of Rare Diseases 2021

Abstract Background Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU associated with wide range of cognitive and psychiatric sequelae. Contemporary management guidelines recommend lifetime dietary control (Phe) levels, however many individuals who discontinue subsequently suffer symptoms anxiety, depres...

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