The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist
@article{Centerwall2000TheDO, title={The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist}, author={S. A. Centerwall and W. R. Centerwall}, journal={Pediatrics}, year={2000}, volume={105}, pages={103 - 89} }
In the 1920s, a little girl 3 years of age was brought from China to the United States by her American mother. [...] Key Method In the United States, she also went from doctors to psychologists to clinics looking for someone who could help. Finally, she went to the Mayo Clinic in Rochester, Minnesota. When she had answered all of the doctor's questions, and all the tests were finished, they still could not tell her what was wrong. There was nothing they could do. The disease from which the little girl suffered…Expand Abstract
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References
SHOWING 1-10 OF 15 REFERENCES
Effect of a phenylalanine-restricted diet on patients with phenylketonuria; clinical observations in three cases.
- Medicine
- Journal of the American Medical Association
- 1956
- 53
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
- Medicine
- Pediatrics
- 1963
- 1,708
- PDF
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
- Biology, Medicine
- Human mutation
- 1992
- 80
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.
- Chemistry, Medicine
- Clinical chemistry
- 1997
- 260
- PDF
An Overview of Newborn Screening Programs in the United States, Canada, Puerto Rico and the Virgin Islands
- 1996
State Lab Institute. Newborns Screened 1962 through 1996
- Jamaica Plain
- 1996
Regional Newborn Screening Program, State Lab Institute. Newborns
- Screened
- 1962
Phenylketonuria (FOLLING's disease). The story of its discovery.
- Medicine
- Journal of the history of medicine and allied sciences
- 1961
- 14