The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS
Guthrie, R., & Susi, A. (1963) · Pediatrics · doi:10.1542/peds.32.3.338 · Cited by 2,219
Body composition of reference children from birth to age 10 years
Fomon, S., Haschke, F., Ziegler, E., & Nelson, S. (1982) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/35.5.1169 · Cited by 1,268
Epidemiology of mucopolysaccharidoses
Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.05.016 · Cited by 1,094
Blau, N., van Spronsen, F. J., & Levy, H. L. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60961-0 · Cited by 1,086
Self-citationPhenylalanine hydroxylase deficiency
Mitchell, J. J., Trakadis, Y. J., & Scriver, C. R. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182141b48 · Cited by 536
Guldberg, P., Rey, F., Zschocke, J., Romano, V., François, B., Michiels, L., Ullrich, K., Hoffmann, G. F., Burgard, P., Schmidt, H., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301920 · Cited by 353
Woo, S. L. C., Lidsky, A. S., Güttler, F., Chandra, T., & Robson, K. J. H. (1983) · Nature · doi:10.1038/306151a0 · Cited by 340
Levy, H. L., Milanowski, A., Chakrapani, A., Cleary, M., Lee, P., Trefz, F. K., Whitley, C. B., Feillet, F., Feigenbaum, A. S., Bebchuk, J. D., et al. (2007) · The Lancet · doi:10.1016/s0140-6736(07)61234-3 · Cited by 320
Cited by
The complete European guidelines on phenylketonuria: diagnosis and treatment
van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., et al. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0685-2 · Cited by 830
Self-citationTetrahydrobiopterin biosynthesis as an off-target of sulfa drugs
Haruki, H., Pedersen, M. G., Gorska, K. I., Pojer, F., & Johnsson, K. (2013) · Science · doi:10.1126/science.1232972 · Cited by 101
Metadata
- Authors
- Blau, N., Hennermann, J. B., Langenbeck, U., & Lichter-Konecki, U.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2011-01
- Volume
- 104
- Pages
- S2-S9
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2094784564
- Cited by
- 262
- References
- 36
- FWCI
- 7.32
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Blau, N., Hennermann, J. B., Langenbeck, U., & Lichter-Konecki, U. (2011). Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2011.08.017
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
