Concepedia

Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong

Chloe Miu Mak, Ching-wan Lam, Stella Chim, Tak-Shing Siu, King-fai Ng, Sidney Tam

Clinical Biochemistry · 2012 · 16 citations · 6 references

References

6

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

Sandra Lindstedt · The Lancet · 1992 · 641 citations

Life Sciences, Biochemistry, Pharmacology +10

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · PEDIATRICS · 2006 · 501 citations

Medicine, Genetics, Pediatrics +17

Hereditary Tyrosinemia and the Heme Biosynthetic Pathway. PROFOUND INHIBITION OF δ-AMINOLEVULINIC ACID DEHYDRATASE ACTIVITY BY SUCCINYLACETONE

Shigeru Sassa, Attallah Kappas · Journal of Clinical Investigation · 1983 · 146 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

Pierre Allard, A Grenier, Mark Korson et al. · Clinical Biochemistry · 2004 · 99 citations

Natural Sciences, Biochemistry, Analytical Chemistry +15

The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

Lauren E. Cipriano, C. Anthony Rupar, Gregory S. Zaric · Value in Health · 2007 · 83 citations · Full text

Medicine, Pediatrics, Pharmacoeconomics +14