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The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat,

The American Journal of Human Genetics · 2020 · 380 citations · 30 references

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References

30

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 722 citations · Full text

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Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

, , +8

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

F. Güttler · PubMed · 1980 · 197 citations

, , +12

Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi et al. · Clinical and Experimental Pediatrics · 2019 · 107 citations · Full text

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Newborn screening: Experiences in the Middle East and North Africa

Amal Saadallah, M. S. Rashed · Journal of Inherited Metabolic Disease · 2007 · 102 citations

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