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Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family

Sally P. Stabler, Mark Korson, Reena Jethva, Robert H. Allen, Jan P. Kraus, Elaine Spector, Conrad Wagner, S. Harvey Mudd

JIMD Reports · 2013 · 36 citations · 37 references

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37

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

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Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

S P Stabler, P D Marcell, Elaine R. Podell et al. · Journal of Clinical Investigation · 1988 · 482 citations · Full text

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Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency

SP Stabler, J Lindenbaum, DG Savage et al. · Blood · 1993 · 261 citations

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Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically

Sufin Yap, Godfried H.J. Boers, Bridget Wilcken et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2001 · 257 citations · Full text

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Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism

Robert H. Allen, Sally P. Stabler, John Lindenbaum · Metabolism · 1993 · 209 citations

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