Diagnostics

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M. 2009. Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots. Clinica Chimica Acta 402 (1-2):38-41.

Bodamer O, De Jesus V, Keutzer J, Zhang K, Hwu W-L, Mühl A. 2008. Screening of newborns for Pompe disease and/or other lysosomal storage disorders. Clinical Therapeutics 30(SUPPL. 1):S8.

Bodamer OA, Dajnoki A, Fekete G, Keutzer J, Orsini J, DeJesus VR, Zhang K, Mühl A. 2008. Newborn screening of lysosomal storage disorders in Austria. Clin Ther 30(SUPPL. 3):S78.

Winyard PG, Knight IA, Shaw FL, Rocks SA, Davies CA, Eggleton P, Haigh R, Whiteman M, Benjamin N. 2008. Determination of S-Nitrosothiols in biological and clinical samples using electron paramagnetic resonance spectrometry with spin trapping. 151-60 p.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. 2007. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab 90:449-452.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. 2007. Erratum to "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots". Mol Genet Metab 92(3):285.

Miller GA. 2007. Therapeutic success via targeted approaches and strategic partnerships with clinical laboratories. IDrugs 10:181-184.

Mistry PK, Sadan S, Yang R, Yee J, Yang M. 2007. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists-Oncologists and an opportunity for early diagnosis and intervention. Amer J Hematology 82(8):697-701.

Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. 2006. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 26:1142-1150.

McClarren J, Donnenfeld AE, Ravnan JB. 2006. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn 26:1212-1215.

Huppert J, Batteiger B, Braslins P, Feldman J, Hobbs M, Sankey H, Sena A, Wendel K. 2005. Use of an immunochromatographic assay for rapid detection of Trichomonas vaginalis in vaginal specimens. J Clin Micro 43:684-687.

Lasky FD. 2005. Technology variations: Strategies for assuring quality results. Lab Med 36:617-620.

Merrill A, Rosenblum-Vos L, Driscoll DA, Daley K, Treat K. 2005. Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings. Prenat Diagn 25:20-22.

Johnson K, Dukes K, Vidaver J, LeShane E, Ramirez I, Weber W, Bischoff F, Hahn S, Sharma A, Dang D, Hire L, Bianchi D, Simpson J, Holzgreve W, Elias S, Klinger K. 2004. Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem 50:516-521.

Homer J, Bhatt S, Huang B, Thangavelu M. 2003. Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH). Prenat Diagn 23:566-571.

Nelson BC, Pfeiffer CM, Margolis SA, Nelson CP. 2003. Affinity extraction combined with stable isotope dilution LC/MS for the determination of 5-methyltetrahydrofolate in human plasma. Anal Biochem 313:117-127.

Nelson BC, Pfeiffer CM, Sniegoski LT, Satterfield MB. 2003. Development and evaluation of an isotope dilution LC/MS method for the determination of total homocysteine in human plasma. Anal Chem 75:775-784.

Satterfield MB, Sniegoski LT, Welch MJ, Nelson BC, Pfeiffer CM. 2003. Comparison of isotope dilution mass spectrometry methods for the determination of total homocysteine in plasma and serum. Anal Chem 75:4631-4638.