The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
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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
Prefrontal Cortex Cognitive Deficits in Children Treated Early and Continuously for PKU
Diamond, A., Prevor, M. B., Callender, G., & Druin, D. P. (1997) · Monographs of the Society for Research in Child Development · doi:10.2307/1166208 · Cited by 717
Improving the transition between paediatric and adult healthcare: a systematic review
Crowley, R., Wolfe, I., Lock, K., & McKee, M. (2011) · Archives of Disease in Childhood · doi:10.1136/adc.2010.202473 · Cited by 649
Wechsler Preschool and Primary Scale of Intelligence - Third Edition (WPPSI-III): (313642005-011)
(2013) · PsycEXTRA Dataset · doi:10.1037/e313642005-011 · Cited by 164
Adaptive Behavior Assessment System—Second Edition
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Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases
Blau, N., Leonard, J. V., Hoffmann, G. F., & Clarke, J. T. R. (2006) · Springer eBooks · doi:10.1007/3-540-28962-3 · Cited by 91
BAYLEY SCALES OF INFANT AND TODDLER DEVELOPMENT, THIRD EDITION (BAYLEY-III)
Soleimani, F., & Azari, N. P. (2014) · Cited by 83
Bortnick, K. (2024) · Routledge eBooks · doi:10.4324/9781003525288-76 · Cited by 63
Biochemical genetics : a laboratory manual
Shapira, E. (1989) · Oxford University Press eBooks · Cited by 43
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
Isabella, V. M., Ha, B. N., Castillo, M. J., Lubkowicz, D. J., Rowe, S. E., Millet, Y. A., Anderson, C. L., Li, N., Fisher, A. B., West, K. A., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4222 · Cited by 605
Key European guidelines for the diagnosis and management of patients with phenylketonuria
van Spronsen, F. J., van Wegberg, A. M., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., et al. (2017) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(16)30320-5 · Cited by 425
The Genetic Landscape and Epidemiology of Phenylketonuria
Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Đorđević, M., Desviat, L. R., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.006 · Cited by 386
Self-citationChinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.101 · Cited by 247
Metadata
- Authors
- Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H., & Berry, S. A.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2014-02
- Volume
- 16
- Issue
- 2
- Pages
- 188-200
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W1990591430
- Cited by
- 731
- References
- 9
- FWCI
- 27.59
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Phenylalanine hydroxylase deficiency: diagnosis and management guideline. https://app.cochat.ai/papers/10.1038/gim.2013.157
- The paper
- Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H., & Berry, S. A. (2014). Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in Medicine. https://doi.org/10.1038/gim.2013.157
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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.
