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6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "6-Pyruvoyl-Tetrahydropterin Synthase Deficiency" returned 0 free, full-text review articles. First 0 results:
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
Last Updated: Nov 20, 2014

6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most frequent form of tetrahydrobiopterin (BH4) deficiency related to hyperphenylalaninemia (HPA). PTPS deficiency may not only cause a typical phenylketonuric phenotype, but is also accompanied by various neurological ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "6-Pyruvoyl-Tetrahydropterin Synthase Deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "6-Pyruvoyl-Tetrahydropterin Synthase Deficiency" returned 0 free, full-text research articles. First 0 results:
Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
Last Updated: May 29, 2019

Genetic defects on 6-pyruvoyl-tetrahydropterin synthase (PTPS) are the most prevalent cause of hyperphenylalaninaemia not due to phenylalanine hydrolyase deficiency (phenylketonuria). PTPS catalyses the second step of tetrahydrobiopterin (BH) cofactor biosynthesis, and its deficiency ...

Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong.
Last Updated: Dec 02, 2018

To evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong.

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
Last Updated: Jun 20, 2013

Antisense oligonucleotide therapy to modulate splicing mutations in inherited diseases is emerging as a treatment option also for metabolic defects. In this article, we report the effect of cellular antisense therapy to suppress pseudoexon activation in primary dermal fibroblasts ...

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