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Molecular prenatal diagnosis of glycogen storage disease type IaQU, Y; ABDENUR, J. E; ENG, C. M et al.Prenatal diagnosis. 1996, Vol 16, Num 4, pp 333-336, issn 0197-3851Article

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A geneENG, C. M; NIEHAUS, D. J; ENRIQUEZ, A. L et al.Human molecular genetics (Print). 1994, Vol 3, Num 10, pp 1795-1799, issn 0964-6906Article

Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patientsFODOR, F. H; WESTON, A; BLEIWEISS, I. J et al.American journal of human genetics. 1998, Vol 63, Num 1, pp 45-51, issn 0002-9297Article

Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implicationsSIBILLE, A; ENG, C. M; KIM, S.-J et al.American journal of human genetics. 1993, Vol 52, Num 6, pp 1094-1101, issn 0002-9297Article

Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellumENG, C. M; DURTSCHI, B. A; ZOGHBI, H. Y et al.Genomics (San Diego, Calif.). 1992, Vol 14, Num 3, pp 813-815, issn 0888-7543Article

Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase geneBERNSTEIN, H. S; BISHOP, D. F; ASTRIN, K. H et al.The Journal of clinical investigation. 1989, Vol 83, Num 4, pp 1390-1399, issn 0021-9738, 10 p.Article

Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and PatnershipENG, C. M; FLETCHER, J; BANIKAZEMI, M et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 2, pp 184-192, issn 0141-8955, 9 p.Conference Paper

Fabry disease : Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)ASHTON-PROLLA, P; ASHLEY, G. A; GIUGLIANI, R et al.American journal of medical genetics. 1999, Vol 84, Num 5, pp 420-424, issn 0148-7299Article

Pulmonary involvement in Fabry diseaseBROWN, L. K; MILLER, A; BHUPTANI, A et al.American journal of respiratory and critical care medicine. 1997, Vol 155, Num 3, pp 1004-1010, issn 1073-449XArticle

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33ENG, C. M; SLAUGENHAUPT, S. A; BLUMENFELD, A et al.American journal of medical genetics. 1995, Vol 59, Num 3, pp 349-355, issn 0148-7299Article

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis. VII: And their population frequencySHERMAN, J. B; RABEN, N; NICASTRI, C et al.American journal of human genetics. 1994, Vol 55, Num 2, pp 305-313, issn 0002-9297Article

Simultaneous determination of Aprepitant and two metabolites in human plasma by high-performance liquid chromatography with tandem mass spectrometric detectionCHAVEZ-ENG, C. M; CONSTANZER, M. L; MATUSZEWSKI, B. K et al.Journal of pharmaceutical and biomedical analysis. 2004, Vol 35, Num 5, pp 1213-1229, issn 0731-7085, 17 p.Article

Strategies for the assessment of matrix effect in quantitative bioanalytical methods based on HPLC-MS/MSMATUSZEWSKI, B. K; CONSTANZER, M. L; CHAVEZ-ENG, C. M et al.Analytical chemistry (Washington, DC). 2003, Vol 75, Num 13, pp 3019-3030, issn 0003-2700, 12 p.Article

Determination of a novel selective inhibitor of type 1 5α-reductase in human plasma by liquid chromatography with atmospheric pressure chemical ionization tandem mass spectrometryCONSTANZER, M. L; CHAVEZ-ENG, C. M; MATUSZEWSKI, B. K et al.Journal of chromatography. B, Biomedical sciences and applications. 1998, Vol 713, Num 2, pp 371-378, issn 1387-2273Article

High-performance liquid chromatographic-tandem mass spectrometric evaluation and determination of stable isotope labeled analogs of rofecoxib in human plasma samples from oral bioavailability studiesCHAVEZ-ENG, C. M; CONSTANZER, M. L; MATUSZEWSKI, B. K et al.Journal of chromatography. B, Biomedical sciences and applications. 2002, Vol 767, Num 1, pp 117-129, issn 1387-2273Article

Development of high-performance liquid chromatography-tandem mass spectrometric methods for the determination of a new oxytocin receptor antagonist (L-368,899) extracted from human plasma and urine : a case of lack of specificity due to the presence of metabolitesMATUSZEWSKI, B. K; CHAVEZ-ENG, C. M; CONSTANZER, M. L et al.Journal of chromatography. B, Biomedical sciences and applications. 1998, Vol 716, Num 1-2, pp 195-208, issn 1387-2273Article

Determination of a novel growth hormone secretagogue (MK-677) in human plasma at picogram levels by liquid chromatography with atmospheric pressure chemical ionization tandem mass spectrometryCONSTANZER, M. L; CHAVEZ-ENG, C. M; MATUSZEWSKI, B. K et al.Journal of chromatography. B, Biomedical sciences and applications. 1997, Vol 693, Num 1, pp 131-137, issn 1387-2273Article

Determination of a cyclic hexapeptide, a novel antifungal agent, in human plasma by high-performance liquid chromatography with ion spray and turbo ion spray tandem mass spectrometric detectionCHAVEZ-ENG, C. M; SCHWARTZ, M; CONSTANZER, M. L et al.Journal of chromatography. B, Biomedical sciences and applications. 1999, Vol 721, Num 2, pp 229-238, issn 1387-2273Article

Determination of a cyclooxygenase II inhibitor in human plasma by capillary gas chromatography with mass spectrometric detectionDRU, J. D.-Y; CHAVEZ-ENG, C. M; CONSTANZER, M. L et al.Journal of chromatography. B. 2004, Vol 805, Num 1, pp 21-25, issn 1570-0232, 5 p.Article

Determination of a novel substance P inhibitor in human plasma by high-performance liquid chromatography with atmospheric pressure chemical ionization mass spectrometric detection using single and triple quadrupole detectorsCONSTANZER, M. L; CHAVEZ-ENG, C. M; DRU, J et al.Journal of chromatography. B. 2004, Vol 807, Num 2, pp 243-250, issn 1570-0232, 8 p.Article

Determination of dextromethorphan and its metabolite dextrorphan in human urine using high performance liquid chromatography with atmospheric pressure chemical ionization tandem mass spectrometry: a study of selectivity of a tandem mass spectrometric assayCONSTANZER, M. L; CHAVEZ-ENG, C. M; FU, I et al.Journal of chromatography. B. 2005, Vol 816, Num 1-2, pp 297-308, issn 1570-0232, 12 p.Article

Quantitative liquid chromatographic and tandem mass spectrometric determination of vitamin D₃ in human serum with derivatization: A comparison of in-tube LLE, 96-well plate LLE and in-tip SPMEXIE, W; CHAVEZ-ENG, C. M; FANG, W et al.Journal of chromatography. B. 2011, Vol 879, Num 17-18, pp 1457-1466, issn 1570-0232, 10 p.Article