Concepedia

Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience

Moaçir Wajner, Daniella de Moura Coelho, Rafaela Ingrassia, Anderson Büker de Oliveira, Estela Natacha Brandt Busanello, Kimiyo Raymond, Ricardo Flores Pires, Carolina Fischinger Moura de Souza, Roberto Giugliani, Carmen Regla Vargas

Clinica Chimica Acta · 2008 · 61 citations · 17 references

DOI

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17

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Thomas H. Zytkovicz, Eileen F Fitzgerald, Deborah Marsden et al. · Clinical Chemistry · 2001 · 496 citations · Full text

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Techniques in diagnostic human biochemical genetics: A laboratory manual

R.C. Strange · FEBS Letters · 1992 · 413 citations · Full text

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Isovaleric acidemia: a new genetic defect of leucine metabolism.

Kay Tanaka, Matthew Budd, Mary L. Efron et al. · Proceedings of the National Academy of Sciences · 1966 · 354 citations · Full text

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Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

Edwin W. Naylor, Donald H. Chace · Journal of Child Neurology · 1999 · 168 citations

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