Phenylalanine hydroxylase (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Phenylalanine hydroxylase" in English language version.

refsWebsite

Global rank English rank

43nih.gov

4^th place

27doi.org

2^nd place

3harvard.edu

18^th place

17^th place

3semanticscholar.org

11^th place

8^th place

2ensembl.org

1,626^th place

1,007^th place

1genome.gov

9,308^th place

8,899^th place

doi.org

Fitzpatrick PF (1999). "Tetrahydropterin-dependent amino acid hydroxylases". Annual Review of Biochemistry. 68: 355–81. doi:10.1146/annurev.biochem.68.1.355. PMID 10872454.
Kaufman S (February 1958). "A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine". The Journal of Biological Chemistry. 230 (2): 931–9. doi:10.1016/S0021-9258(18)70516-4. PMID 13525410.
Fitzpatrick PF (December 2003). "Mechanism of aromatic amino acid hydroxylation". Biochemistry. 42 (48): 14083–91. doi:10.1021/bi035656u. PMC 1635487. PMID 14640675.
Panay AJ, Lee M, Krebs C, Bollinger JM, Fitzpatrick PF (March 2011). "Evidence for a high-spin Fe(IV) species in the catalytic cycle of a bacterial phenylalanine hydroxylase". Biochemistry. 50 (11): 1928–33. doi:10.1021/bi1019868. PMC 3059337. PMID 21261288.
Bassan A, Blomberg MR, Siegbahn PE (January 2003). "Mechanism of dioxygen cleavage in tetrahydrobiopterin-dependent amino acid hydroxylases". Chemistry: A European Journal. 9 (1): 106–15. doi:10.1002/chem.200390006. PMID 12506369.
Olsson E, Martinez A, Teigen K, Jensen VR (March 2011). "Formation of the iron-oxo hydroxylating species in the catalytic cycle of aromatic amino acid hydroxylases". Chemistry: A European Journal. 17 (13): 3746–58. doi:10.1002/chem.201002910. PMID 21351297.
Bassan A, Blomberg MR, Siegbahn PE (September 2003). "Mechanism of aromatic hydroxylation by an activated FeIV=O core in tetrahydrobiopterin-dependent hydroxylases". Chemistry: A European Journal. 9 (17): 4055–67. doi:10.1002/chem.200304768. PMID 12953191.
Pavon JA, Fitzpatrick PF (September 2006). "Insights into the catalytic mechanisms of phenylalanine and tryptophan hydroxylase from kinetic isotope effects on aromatic hydroxylation". Biochemistry. 45 (36): 11030–7. doi:10.1021/bi0607554. PMC 1945167. PMID 16953590.
Flatmark T, Stevens RC (August 1999). "Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms". Chemical Reviews. 99 (8): 2137–2160. doi:10.1021/cr980450y. PMID 11849022.
Selwood T, Jaffe EK (March 2012). "Dynamic dissociating homo-oligomers and the control of protein function". Archives of Biochemistry and Biophysics. 519 (2): 131–43. doi:10.1016/j.abb.2011.11.020. PMC 3298769. PMID 22182754.
Jaffe EK, Stith L, Lawrence SH, Andrake M, Dunbrack RL (February 2013). "A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics". Archives of Biochemistry and Biophysics. 530 (2): 73–82. doi:10.1016/j.abb.2012.12.017. PMC 3580015. PMID 23296088.
Arturo EC, Gupta K, Héroux A, Stith L, Cross PJ, Parker EJ, et al. (March 2016). "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer". Proceedings of the National Academy of Sciences of the United States of America. 113 (9): 2394–9. Bibcode:2016PNAS..113.2394A. doi:10.1073/pnas.1516967113. PMC 4780608. PMID 26884182.
Jaffe EK (August 2017). "New protein structures provide an updated understanding of phenylketonuria". Molecular Genetics and Metabolism. 121 (4): 289–296. doi:10.1016/j.ymgme.2017.06.005. PMC 5549558. PMID 28645531.
Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW (April 2016). "Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain". Scientific Reports. 6 (1): 23748. Bibcode:2016NatSR...623748P. doi:10.1038/srep23748. PMC 4822156. PMID 27049649.
Meisburger SP, Taylor AB, Khan CA, Zhang S, Fitzpatrick PF, Ando N (May 2016). "Domain Movements upon Activation of Phenylalanine Hydroxylase Characterized by Crystallography and Chromatography-Coupled Small-Angle X-ray Scattering". Journal of the American Chemical Society. 138 (20): 6506–16. doi:10.1021/jacs.6b01563. PMC 4896396. PMID 27145334.
Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC (December 1997). "Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria". Nature Structural Biology. 4 (12): 995–1000. doi:10.1038/nsb1297-995. PMID 9406548. S2CID 6293946.
Andersen OA, Flatmark T, Hough E (July 2002). "Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation". Journal of Molecular Biology. 320 (5): 1095–108. doi:10.1016/S0022-2836(02)00560-0. PMID 12126628.
Teigen K, Frøystein NA, Martínez A (December 1999). "The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism". Journal of Molecular Biology. 294 (3): 807–23. doi:10.1006/jmbi.1999.3288. PMID 10610798.
Li J, Dangott LJ, Fitzpatrick PF (April 2010). "Regulation of phenylalanine hydroxylase: conformational changes upon phenylalanine binding detected by hydrogen/deuterium exchange and mass spectrometry". Biochemistry. 49 (15): 3327–35. doi:10.1021/bi1001294. PMC 2855537. PMID 20307070.
Li J, Ilangovan U, Daubner SC, Hinck AP, Fitzpatrick PF (January 2011). "Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase". Archives of Biochemistry and Biophysics. 505 (2): 250–5. doi:10.1016/j.abb.2010.10.009. PMC 3019263. PMID 20951114.
Kobe B, Jennings IG, House CM, Michell BJ, Goodwill KE, Santarsiero BD, et al. (May 1999). "Structural basis of autoregulation of phenylalanine hydroxylase". Nature Structural Biology. 6 (5): 442–8. doi:10.1038/8247. PMID 10331871. S2CID 11709986.
Daubner SC, Hillas PJ, Fitzpatrick PF (December 1997). "Expression and characterization of the catalytic domain of human phenylalanine hydroxylase". Archives of Biochemistry and Biophysics. 348 (2): 295–302. doi:10.1006/abbi.1997.0435. PMID 9434741.
Bjørgo E, de Carvalho RM, Flatmark T (February 2001). "A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427→Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative substrate binding". European Journal of Biochemistry. 268 (4): 997–1005. doi:10.1046/j.1432-1327.2001.01958.x. PMID 11179966.
Kaufman S (March 1999). "A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients". Proceedings of the National Academy of Sciences of the United States of America. 96 (6): 3160–4. Bibcode:1999PNAS...96.3160K. doi:10.1073/pnas.96.6.3160. PMC 15912. PMID 10077654.
Lichter-Konecki U, Hipke CM, Konecki DS (August 1999). "Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues". Molecular Genetics and Metabolism. 67 (4): 308–16. doi:10.1006/mgme.1999.2880. PMID 10444341.
Muntau AC, Gersting SW (December 2010). "Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism". Journal of Inherited Metabolic Disease. 33 (6): 649–58. doi:10.1007/s10545-010-9185-4. PMID 20824346. S2CID 20843095.
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, et al. (March 2021). "CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria". Scientific Reports. 11 (1): 7254. doi:10.1038/s41598-021-86663-8. PMC 8012645. PMID 33790381.

ensembl.org

May2017.archive.ensembl.org

GRCh38: Ensembl release 89: ENSG00000171759 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020051 – Ensembl, May 2017

genome.gov

"Knockout Mice Fact Sheet". Genome.gov.

harvard.edu

ui.adsabs.harvard.edu

Arturo EC, Gupta K, Héroux A, Stith L, Cross PJ, Parker EJ, et al. (March 2016). "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer". Proceedings of the National Academy of Sciences of the United States of America. 113 (9): 2394–9. Bibcode:2016PNAS..113.2394A. doi:10.1073/pnas.1516967113. PMC 4780608. PMID 26884182.
Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW (April 2016). "Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain". Scientific Reports. 6 (1): 23748. Bibcode:2016NatSR...623748P. doi:10.1038/srep23748. PMC 4822156. PMID 27049649.
Kaufman S (March 1999). "A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients". Proceedings of the National Academy of Sciences of the United States of America. 96 (6): 3160–4. Bibcode:1999PNAS...96.3160K. doi:10.1073/pnas.96.6.3160. PMC 15912. PMID 10077654.

nih.gov

pubmed.ncbi.nlm.nih.gov

Fitzpatrick PF (1999). "Tetrahydropterin-dependent amino acid hydroxylases". Annual Review of Biochemistry. 68: 355–81. doi:10.1146/annurev.biochem.68.1.355. PMID 10872454.
Kaufman S (February 1958). "A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine". The Journal of Biological Chemistry. 230 (2): 931–9. doi:10.1016/S0021-9258(18)70516-4. PMID 13525410.
Fitzpatrick PF (December 2003). "Mechanism of aromatic amino acid hydroxylation". Biochemistry. 42 (48): 14083–91. doi:10.1021/bi035656u. PMC 1635487. PMID 14640675.
Panay AJ, Lee M, Krebs C, Bollinger JM, Fitzpatrick PF (March 2011). "Evidence for a high-spin Fe(IV) species in the catalytic cycle of a bacterial phenylalanine hydroxylase". Biochemistry. 50 (11): 1928–33. doi:10.1021/bi1019868. PMC 3059337. PMID 21261288.
Bassan A, Blomberg MR, Siegbahn PE (January 2003). "Mechanism of dioxygen cleavage in tetrahydrobiopterin-dependent amino acid hydroxylases". Chemistry: A European Journal. 9 (1): 106–15. doi:10.1002/chem.200390006. PMID 12506369.
Olsson E, Martinez A, Teigen K, Jensen VR (March 2011). "Formation of the iron-oxo hydroxylating species in the catalytic cycle of aromatic amino acid hydroxylases". Chemistry: A European Journal. 17 (13): 3746–58. doi:10.1002/chem.201002910. PMID 21351297.
Bassan A, Blomberg MR, Siegbahn PE (September 2003). "Mechanism of aromatic hydroxylation by an activated FeIV=O core in tetrahydrobiopterin-dependent hydroxylases". Chemistry: A European Journal. 9 (17): 4055–67. doi:10.1002/chem.200304768. PMID 12953191.
Pavon JA, Fitzpatrick PF (September 2006). "Insights into the catalytic mechanisms of phenylalanine and tryptophan hydroxylase from kinetic isotope effects on aromatic hydroxylation". Biochemistry. 45 (36): 11030–7. doi:10.1021/bi0607554. PMC 1945167. PMID 16953590.
Flatmark T, Stevens RC (August 1999). "Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms". Chemical Reviews. 99 (8): 2137–2160. doi:10.1021/cr980450y. PMID 11849022.
Selwood T, Jaffe EK (March 2012). "Dynamic dissociating homo-oligomers and the control of protein function". Archives of Biochemistry and Biophysics. 519 (2): 131–43. doi:10.1016/j.abb.2011.11.020. PMC 3298769. PMID 22182754.
Jaffe EK, Stith L, Lawrence SH, Andrake M, Dunbrack RL (February 2013). "A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics". Archives of Biochemistry and Biophysics. 530 (2): 73–82. doi:10.1016/j.abb.2012.12.017. PMC 3580015. PMID 23296088.
Arturo EC, Gupta K, Héroux A, Stith L, Cross PJ, Parker EJ, et al. (March 2016). "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer". Proceedings of the National Academy of Sciences of the United States of America. 113 (9): 2394–9. Bibcode:2016PNAS..113.2394A. doi:10.1073/pnas.1516967113. PMC 4780608. PMID 26884182.
Jaffe EK (August 2017). "New protein structures provide an updated understanding of phenylketonuria". Molecular Genetics and Metabolism. 121 (4): 289–296. doi:10.1016/j.ymgme.2017.06.005. PMC 5549558. PMID 28645531.
Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW (April 2016). "Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain". Scientific Reports. 6 (1): 23748. Bibcode:2016NatSR...623748P. doi:10.1038/srep23748. PMC 4822156. PMID 27049649.
Meisburger SP, Taylor AB, Khan CA, Zhang S, Fitzpatrick PF, Ando N (May 2016). "Domain Movements upon Activation of Phenylalanine Hydroxylase Characterized by Crystallography and Chromatography-Coupled Small-Angle X-ray Scattering". Journal of the American Chemical Society. 138 (20): 6506–16. doi:10.1021/jacs.6b01563. PMC 4896396. PMID 27145334.
Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC (December 1997). "Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria". Nature Structural Biology. 4 (12): 995–1000. doi:10.1038/nsb1297-995. PMID 9406548. S2CID 6293946.
Andersen OA, Flatmark T, Hough E (July 2002). "Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation". Journal of Molecular Biology. 320 (5): 1095–108. doi:10.1016/S0022-2836(02)00560-0. PMID 12126628.
Teigen K, Frøystein NA, Martínez A (December 1999). "The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism". Journal of Molecular Biology. 294 (3): 807–23. doi:10.1006/jmbi.1999.3288. PMID 10610798.
Li J, Dangott LJ, Fitzpatrick PF (April 2010). "Regulation of phenylalanine hydroxylase: conformational changes upon phenylalanine binding detected by hydrogen/deuterium exchange and mass spectrometry". Biochemistry. 49 (15): 3327–35. doi:10.1021/bi1001294. PMC 2855537. PMID 20307070.
Li J, Ilangovan U, Daubner SC, Hinck AP, Fitzpatrick PF (January 2011). "Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase". Archives of Biochemistry and Biophysics. 505 (2): 250–5. doi:10.1016/j.abb.2010.10.009. PMC 3019263. PMID 20951114.
Kobe B, Jennings IG, House CM, Michell BJ, Goodwill KE, Santarsiero BD, et al. (May 1999). "Structural basis of autoregulation of phenylalanine hydroxylase". Nature Structural Biology. 6 (5): 442–8. doi:10.1038/8247. PMID 10331871. S2CID 11709986.
Daubner SC, Hillas PJ, Fitzpatrick PF (December 1997). "Expression and characterization of the catalytic domain of human phenylalanine hydroxylase". Archives of Biochemistry and Biophysics. 348 (2): 295–302. doi:10.1006/abbi.1997.0435. PMID 9434741.
Bjørgo E, de Carvalho RM, Flatmark T (February 2001). "A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427→Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative substrate binding". European Journal of Biochemistry. 268 (4): 997–1005. doi:10.1046/j.1432-1327.2001.01958.x. PMID 11179966.
Kaufman S (March 1999). "A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients". Proceedings of the National Academy of Sciences of the United States of America. 96 (6): 3160–4. Bibcode:1999PNAS...96.3160K. doi:10.1073/pnas.96.6.3160. PMC 15912. PMID 10077654.
Lichter-Konecki U, Hipke CM, Konecki DS (August 1999). "Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues". Molecular Genetics and Metabolism. 67 (4): 308–16. doi:10.1006/mgme.1999.2880. PMID 10444341.
Muntau AC, Gersting SW (December 2010). "Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism". Journal of Inherited Metabolic Disease. 33 (6): 649–58. doi:10.1007/s10545-010-9185-4. PMID 20824346. S2CID 20843095.
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, et al. (March 2021). "CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria". Scientific Reports. 11 (1): 7254. doi:10.1038/s41598-021-86663-8. PMC 8012645. PMID 33790381.

ncbi.nlm.nih.gov

"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Fitzpatrick PF (December 2003). "Mechanism of aromatic amino acid hydroxylation". Biochemistry. 42 (48): 14083–91. doi:10.1021/bi035656u. PMC 1635487. PMID 14640675.
Panay AJ, Lee M, Krebs C, Bollinger JM, Fitzpatrick PF (March 2011). "Evidence for a high-spin Fe(IV) species in the catalytic cycle of a bacterial phenylalanine hydroxylase". Biochemistry. 50 (11): 1928–33. doi:10.1021/bi1019868. PMC 3059337. PMID 21261288.
Pavon JA, Fitzpatrick PF (September 2006). "Insights into the catalytic mechanisms of phenylalanine and tryptophan hydroxylase from kinetic isotope effects on aromatic hydroxylation". Biochemistry. 45 (36): 11030–7. doi:10.1021/bi0607554. PMC 1945167. PMID 16953590.
Selwood T, Jaffe EK (March 2012). "Dynamic dissociating homo-oligomers and the control of protein function". Archives of Biochemistry and Biophysics. 519 (2): 131–43. doi:10.1016/j.abb.2011.11.020. PMC 3298769. PMID 22182754.
Jaffe EK, Stith L, Lawrence SH, Andrake M, Dunbrack RL (February 2013). "A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics". Archives of Biochemistry and Biophysics. 530 (2): 73–82. doi:10.1016/j.abb.2012.12.017. PMC 3580015. PMID 23296088.
Arturo EC, Gupta K, Héroux A, Stith L, Cross PJ, Parker EJ, et al. (March 2016). "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer". Proceedings of the National Academy of Sciences of the United States of America. 113 (9): 2394–9. Bibcode:2016PNAS..113.2394A. doi:10.1073/pnas.1516967113. PMC 4780608. PMID 26884182.
Jaffe EK (August 2017). "New protein structures provide an updated understanding of phenylketonuria". Molecular Genetics and Metabolism. 121 (4): 289–296. doi:10.1016/j.ymgme.2017.06.005. PMC 5549558. PMID 28645531.
Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW (April 2016). "Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain". Scientific Reports. 6 (1): 23748. Bibcode:2016NatSR...623748P. doi:10.1038/srep23748. PMC 4822156. PMID 27049649.
Meisburger SP, Taylor AB, Khan CA, Zhang S, Fitzpatrick PF, Ando N (May 2016). "Domain Movements upon Activation of Phenylalanine Hydroxylase Characterized by Crystallography and Chromatography-Coupled Small-Angle X-ray Scattering". Journal of the American Chemical Society. 138 (20): 6506–16. doi:10.1021/jacs.6b01563. PMC 4896396. PMID 27145334.
Li J, Dangott LJ, Fitzpatrick PF (April 2010). "Regulation of phenylalanine hydroxylase: conformational changes upon phenylalanine binding detected by hydrogen/deuterium exchange and mass spectrometry". Biochemistry. 49 (15): 3327–35. doi:10.1021/bi1001294. PMC 2855537. PMID 20307070.
Li J, Ilangovan U, Daubner SC, Hinck AP, Fitzpatrick PF (January 2011). "Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase". Archives of Biochemistry and Biophysics. 505 (2): 250–5. doi:10.1016/j.abb.2010.10.009. PMC 3019263. PMID 20951114.
Kaufman S (March 1999). "A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients". Proceedings of the National Academy of Sciences of the United States of America. 96 (6): 3160–4. Bibcode:1999PNAS...96.3160K. doi:10.1073/pnas.96.6.3160. PMC 15912. PMID 10077654.
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, et al. (March 2021). "CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria". Scientific Reports. 11 (1): 7254. doi:10.1038/s41598-021-86663-8. PMC 8012645. PMID 33790381.
"PAH phenylalanine hydroxylase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.

semanticscholar.org

api.semanticscholar.org

Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC (December 1997). "Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria". Nature Structural Biology. 4 (12): 995–1000. doi:10.1038/nsb1297-995. PMID 9406548. S2CID 6293946.
Kobe B, Jennings IG, House CM, Michell BJ, Goodwill KE, Santarsiero BD, et al. (May 1999). "Structural basis of autoregulation of phenylalanine hydroxylase". Nature Structural Biology. 6 (5): 442–8. doi:10.1038/8247. PMID 10331871. S2CID 11709986.
Muntau AC, Gersting SW (December 2010). "Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism". Journal of Inherited Metabolic Disease. 33 (6): 649–58. doi:10.1007/s10545-010-9185-4. PMID 20824346. S2CID 20843095.