D. Salazar

发表

Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.

H. Bonkovsky, K. Anderson, S. Tortorelli, 2021, The American journal of the medical sciences.

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

G. Enns, B. Graham, B. Lanpher, 2012, Molecular genetics and metabolism.

Improving Accuracy of Tay Sachs Carrier Screening of the Non-Jewish Population: Analysis of 34 Carriers and Six Late-Onset Patients With HEXA Enzyme and DNA Sequence Analysis

N. Park, Weimin Sun, C. Strom, 2010, Pediatric Research.

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

D. Rimoin, W. Wilcox, D. Krakow, 2000, European Journal of Human Genetics.

Tay-Sachs carrier screening in the genomics age: Gene sequencing versus enzyme analysis in non-Jewish individuals

N. Park, C. Strom, B. Crossley, 2013 .

Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.

N. Blau, D. Salazar, K. Kloke, 2023, Molecular genetics and metabolism.

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer

C. Strom, R. Alvero, M. Cedars, 2012, Journal of Assisted Reproduction and Genetics.

Inborn Errors of Metabolism and the Gastrointestinal Tract.

D. Salazar, K. Kloke, R. B. Guerrero, 2019, Gastroenterology clinics of North America.

Laboratory diagnostic approaches in metabolic disorders.

P. Tanpaiboon, D. Salazar, R. B. Guerrero, 2018, Annals of translational medicine.

Racial disparity in maternal and fetal-cord bisphenol A concentrations

T. Hulsey, R. Newman, L. Guillette, 2012, Journal of Perinatology.

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

Henry J. Lin, A. Jonas, D. Rosenblatt, 2009, The Journal of pediatrics.

Maternal glutaric acidemia, type I identified by newborn screening.

S. Cederbaum, E. Spector, J. Neidich, 2008, Molecular genetics and metabolism.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

S. Cederbaum, C. Rowland, P. Tanpaiboon, 2021, Molecular genetics and metabolism reports.