Concepedia

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Josef Bártl, Petr Chrastina, Jakub Krijt, Jakub Hodík, Karolína Pešková, Viktor Kožich

Clinica Chimica Acta · 2014 · 38 citations · 29 references

DOI

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29

The metabolic and molecular bases of inherited disease

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

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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

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 · 252 citations · Full text

Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

Dietrich Matern, Silvia Tortorelli, Devin Oglesbee et al. · Journal of Inherited Metabolic Disease · 2007 · 220 citations · Full text

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

C. Ronald Scott, Susan Elliott, Norman E. Buroker et al. · The Journal of Pediatrics · 2013 · 159 citations · Full text

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