6-Pyruvoyltetrahydropterin synthase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "6-Pyruvoyltetrahydropterin synthase deficiency" in English language version.

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14nih.gov

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9doi.org

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4worldcat.org

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2semanticscholar.org

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1orpha.net

3,537^th place

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1intd-online.org

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doi.org

Thöny B; Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755. S2CID 9085242.
Pearl PL; Taylor JL; Trzcinski S; Sokohl A (May 2007). "The pediatric neurotransmitter disorders". J Child Neurol. 22 (5): 606–616. doi:10.1177/0883073807302619. PMID 17690069. S2CID 10689202.
Ogawa, Atsushi; Kanazawa, Masaki; Takayanagi, Masaki; Kitani, Yutaka; Shintaku, Haruo; Kohno, Yoichi (2008). "A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels". Brain and Development. 30 (1). Elsevier BV: 82–85. doi:10.1016/j.braindev.2007.05.011. ISSN 0387-7604.
Escalante-Acosta, Bruno Alfonso; Ramos-Brizuela, Luz Maria; Vargas-Robles, Hilda; Rubio-Guerra, Alberto Francisco (2010-09-29). "Is tetrahydrobiopterin a therapeutic option in diabetic hypertensive patients?". Integrated Blood Pressure Control. 3: 125–32. doi:10.2147/ibpc.s7479. PMC 3172060. PMID 21949628.
Nar, H.; Huber, R.; Heizmann, C.W.; Thöny, B.; Bürgisser, D. (March 1994). "Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis". The EMBO Journal. 13 (6): 1255–1262. doi:10.1002/j.1460-2075.1994.tb06377.x. ISSN 0261-4189. PMC 394939. PMID 8137809.
Scherer-Oppliger, Tanja; Leimbacher, Walter; Blau, Nenad; Thöny, Beat (1999-10-29). "Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II". Journal of Biological Chemistry. 274 (44): 31341–31348. doi:10.1074/jbc.274.44.31341. ISSN 0021-9258. PMID 10531334.
Parge, H.E.; Arvai, A.S.; Tainer, J.A. (1995-02-07). "Human Ckshs2 Atomic Structure: A Role for ITS Hexameric Assembly in Cell Cycle Control". Science. 262 (5132): 387–95. doi:10.2210/pdb1cks/pdb. PMID 8211159.
Liu, Tze-Tze; Chiang, Szu-Hui; Wu, Sheu-Jen; Hsiao, Kwang-Jen (November 2001). "Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese". Clinica Chimica Acta. 313 (1–2): 157–169. doi:10.1016/s0009-8981(01)00669-6. ISSN 0009-8981. PMID 11694255.
Blau, Nenad (February 2016). "Genetics of Phenylketonuria: Then and Now". Human Mutation. 37 (6): 508–515. doi:10.1002/humu.22980. PMID 26919687.

intd-online.org

"Home".

nih.gov

pubmed.ncbi.nlm.nih.gov

Thöny B; Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755. S2CID 9085242.
Pearl PL; Taylor JL; Trzcinski S; Sokohl A (May 2007). "The pediatric neurotransmitter disorders". J Child Neurol. 22 (5): 606–616. doi:10.1177/0883073807302619. PMID 17690069. S2CID 10689202.
Ogawa, Atsushi; Kanazawa, Masaki; Takayanagi, Masaki; Kitani, Yutaka; Shintaku, Haruo; Kohno, Yoichi (2008). "A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels". Brain and Development. 30 (1). Elsevier BV: 82–85. doi:10.1016/j.braindev.2007.05.011. ISSN 0387-7604.
Escalante-Acosta, Bruno Alfonso; Ramos-Brizuela, Luz Maria; Vargas-Robles, Hilda; Rubio-Guerra, Alberto Francisco (2010-09-29). "Is tetrahydrobiopterin a therapeutic option in diabetic hypertensive patients?". Integrated Blood Pressure Control. 3: 125–32. doi:10.2147/ibpc.s7479. PMC 3172060. PMID 21949628.
Regier, Debra S; Greene, Carol L (January 5, 2017). "Phenylalanine Hydroxylase Deficiency". University of Washington, Seattle. PMID 20301677. Retrieved November 27, 2023.
Nar, H.; Huber, R.; Heizmann, C.W.; Thöny, B.; Bürgisser, D. (March 1994). "Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis". The EMBO Journal. 13 (6): 1255–1262. doi:10.1002/j.1460-2075.1994.tb06377.x. ISSN 0261-4189. PMC 394939. PMID 8137809.
Scherer-Oppliger, Tanja; Leimbacher, Walter; Blau, Nenad; Thöny, Beat (1999-10-29). "Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II". Journal of Biological Chemistry. 274 (44): 31341–31348. doi:10.1074/jbc.274.44.31341. ISSN 0021-9258. PMID 10531334.
Parge, H.E.; Arvai, A.S.; Tainer, J.A. (1995-02-07). "Human Ckshs2 Atomic Structure: A Role for ITS Hexameric Assembly in Cell Cycle Control". Science. 262 (5132): 387–95. doi:10.2210/pdb1cks/pdb. PMID 8211159.
Liu, Tze-Tze; Chiang, Szu-Hui; Wu, Sheu-Jen; Hsiao, Kwang-Jen (November 2001). "Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese". Clinica Chimica Acta. 313 (1–2): 157–169. doi:10.1016/s0009-8981(01)00669-6. ISSN 0009-8981. PMID 11694255.
Blau, Nenad (February 2016). "Genetics of Phenylketonuria: Then and Now". Human Mutation. 37 (6): 508–515. doi:10.1002/humu.22980. PMID 26919687.

ncbi.nlm.nih.gov

Escalante-Acosta, Bruno Alfonso; Ramos-Brizuela, Luz Maria; Vargas-Robles, Hilda; Rubio-Guerra, Alberto Francisco (2010-09-29). "Is tetrahydrobiopterin a therapeutic option in diabetic hypertensive patients?". Integrated Blood Pressure Control. 3: 125–32. doi:10.2147/ibpc.s7479. PMC 3172060. PMID 21949628.
Regier, Debra S; Greene, Carol L (January 5, 2017). "Phenylalanine Hydroxylase Deficiency". University of Washington, Seattle. PMID 20301677. Retrieved November 27, 2023.
Nar, H.; Huber, R.; Heizmann, C.W.; Thöny, B.; Bürgisser, D. (March 1994). "Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis". The EMBO Journal. 13 (6): 1255–1262. doi:10.1002/j.1460-2075.1994.tb06377.x. ISSN 0261-4189. PMC 394939. PMID 8137809.

rarediseases.info.nih.gov

"6-pyruvoyl-tetrahydropterin synthase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-12-09.

orpha.net

"Orphanet: 6 pyruvoyl tetrahydropterin synthase deficiency". www.orpha.net. Retrieved 16 June 2019.

semanticscholar.org

api.semanticscholar.org

Thöny B; Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755. S2CID 9085242.
Pearl PL; Taylor JL; Trzcinski S; Sokohl A (May 2007). "The pediatric neurotransmitter disorders". J Child Neurol. 22 (5): 606–616. doi:10.1177/0883073807302619. PMID 17690069. S2CID 10689202.

worldcat.org

search.worldcat.org

Ogawa, Atsushi; Kanazawa, Masaki; Takayanagi, Masaki; Kitani, Yutaka; Shintaku, Haruo; Kohno, Yoichi (2008). "A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels". Brain and Development. 30 (1). Elsevier BV: 82–85. doi:10.1016/j.braindev.2007.05.011. ISSN 0387-7604.
Nar, H.; Huber, R.; Heizmann, C.W.; Thöny, B.; Bürgisser, D. (March 1994). "Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis". The EMBO Journal. 13 (6): 1255–1262. doi:10.1002/j.1460-2075.1994.tb06377.x. ISSN 0261-4189. PMC 394939. PMID 8137809.
Scherer-Oppliger, Tanja; Leimbacher, Walter; Blau, Nenad; Thöny, Beat (1999-10-29). "Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II". Journal of Biological Chemistry. 274 (44): 31341–31348. doi:10.1074/jbc.274.44.31341. ISSN 0021-9258. PMID 10531334.
Liu, Tze-Tze; Chiang, Szu-Hui; Wu, Sheu-Jen; Hsiao, Kwang-Jen (November 2001). "Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese". Clinica Chimica Acta. 313 (1–2): 157–169. doi:10.1016/s0009-8981(01)00669-6. ISSN 0009-8981. PMID 11694255.