Is There Treatment for “Genetic” Disease?
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference71 articles.
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1. Management of rare diseases;Translational Science of Rare Diseases;2020-04-13
2. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis;Molecular Genetics and Metabolism;2012-07
3. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment;Molecular Genetics and Metabolism;2007-12
4. Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: Possible role on cognitive defect seen in PKU;Neurochemistry International;2005-06
5. Treatment of monogenic disorders;Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics;2005-01-15
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