6-Pyruvoyltetrahydropterin synthase deficiency

WikiDoc Resources for 6-Pyruvoyltetrahydropterin synthase deficiency
Articles
Most recent articles on 6-Pyruvoyltetrahydropterin synthase deficiency Most cited articles on 6-Pyruvoyltetrahydropterin synthase deficiency Review articles on 6-Pyruvoyltetrahydropterin synthase deficiency Articles on 6-Pyruvoyltetrahydropterin synthase deficiency in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on 6-Pyruvoyltetrahydropterin synthase deficiency Images of 6-Pyruvoyltetrahydropterin synthase deficiency Photos of 6-Pyruvoyltetrahydropterin synthase deficiency Podcasts & MP3s on 6-Pyruvoyltetrahydropterin synthase deficiency Videos on 6-Pyruvoyltetrahydropterin synthase deficiency
Evidence Based Medicine
Cochrane Collaboration on 6-Pyruvoyltetrahydropterin synthase deficiency Bandolier on 6-Pyruvoyltetrahydropterin synthase deficiency TRIP on 6-Pyruvoyltetrahydropterin synthase deficiency
Clinical Trials
Ongoing Trials on 6-Pyruvoyltetrahydropterin synthase deficiency at Clinical Trials.gov Trial results on 6-Pyruvoyltetrahydropterin synthase deficiency Clinical Trials on 6-Pyruvoyltetrahydropterin synthase deficiency at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on 6-Pyruvoyltetrahydropterin synthase deficiency NICE Guidance on 6-Pyruvoyltetrahydropterin synthase deficiency NHS PRODIGY Guidance FDA on 6-Pyruvoyltetrahydropterin synthase deficiency CDC on 6-Pyruvoyltetrahydropterin synthase deficiency
Books
Books on 6-Pyruvoyltetrahydropterin synthase deficiency
News
6-Pyruvoyltetrahydropterin synthase deficiency in the news Be alerted to news on 6-Pyruvoyltetrahydropterin synthase deficiency News trends on 6-Pyruvoyltetrahydropterin synthase deficiency
Commentary
Blogs on 6-Pyruvoyltetrahydropterin synthase deficiency
Definitions
Definitions of 6-Pyruvoyltetrahydropterin synthase deficiency
Patient Resources / Community
Patient resources on 6-Pyruvoyltetrahydropterin synthase deficiency Discussion groups on 6-Pyruvoyltetrahydropterin synthase deficiency Patient Handouts on 6-Pyruvoyltetrahydropterin synthase deficiency Directions to Hospitals Treating 6-Pyruvoyltetrahydropterin synthase deficiency Risk calculators and risk factors for 6-Pyruvoyltetrahydropterin synthase deficiency
Healthcare Provider Resources
Symptoms of 6-Pyruvoyltetrahydropterin synthase deficiency Causes & Risk Factors for 6-Pyruvoyltetrahydropterin synthase deficiency Diagnostic studies for 6-Pyruvoyltetrahydropterin synthase deficiency Treatment of 6-Pyruvoyltetrahydropterin synthase deficiency
Continuing Medical Education (CME)
CME Programs on 6-Pyruvoyltetrahydropterin synthase deficiency
International
6-Pyruvoyltetrahydropterin synthase deficiency en Espanol 6-Pyruvoyltetrahydropterin synthase deficiency en Francais
Business
6-Pyruvoyltetrahydropterin synthase deficiency in the Marketplace Patents on 6-Pyruvoyltetrahydropterin synthase deficiency
Experimental / Informatics
List of terms related to 6-Pyruvoyltetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.

References

• Thony B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum Mutat 10 (1): 11-20. PMID 9222755

External links

• Online 'Mendelian Inheritance in Man' (OMIM) 261640