Concepedia

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation

Jacob G. Dubroff, Paul R. Gallagher, Jessica Burfield, Christie Hussa, Rebecca Randall, Hongming Zhuang

Journal of Clinical Neurology · 2013 · 13 citations · 13 references

Open access

Abstract

Further studies with a larger sample size are needed to confirm the above changes in both sapropterin non-responsive and responsive PKU patients.

References

13

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

Ania C. Muntau, Wulf Röschinger, Matthias Habich et al. · New England Journal of Medicine · 2002 · 301 citations · Full text

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

Julia B. Hennermann, Christoph Bührer, Nenad Blau et al. · Molecular Genetics and Metabolism · 2005 · 107 citations

Chronic Kidney Disease, Long-term Treatment, Inherited Metabolic Disease +3

Enhancement of Dopamine Release In Vivo from the Rat Striatum by Dialytic Perfusion of 6<i>R</i>‐<scp>l</scp>‐<i>erythro</i>‐5,6,7,8‐Tetrahydrobiopterin

Kunio Koshimura, Soichi Miwa, Ken Lee et al. · Journal of Neurochemistry · 1990 · 93 citations

Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria

Yoshitami Sanayama, Hironori Nagasaka, Masaki Takayanagi et al. · Molecular Genetics and Metabolism · 2011 · 84 citations

Experimental Evidence, Physiology, Metabolism +2