Keywords: NPOx; Newborn pulse oximetry screening; POx; Pulse oximetry screening; RUSP; Recommended Uniform Screening Panel;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: CORN; Council of Regional Networks for Genetic Services; DSHEA; Dietary Supplement Health and Education Act; HRSA; Health Resources and Services Administration; IEM; inborn errors of metabolism; MS/MS; tandem mass spectrometry; NBS; newborn screening; NCH
Keywords: AAV; adeno-associated virus; ACMG; American College of Medical Genetics and Genomics; AHRQ; Agency for Healthcare Research and Quality; BH4; tetrahydrobiopterin; BMD; bone mineral density; CDE; Common Data Element; CHD; congenital heart disease; CNS; cent
Keywords: AAP; American Academy of Pediatrics; AHA; American Heart Association; CCHD; Critical congenital heart disease; CHD; Congenital heart disease; HHS; Department of Health and Human Services; RUSP; Recommended Uniform Screening Panel; SACHDNC; Department of H
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13TÂ >Â G “late-onset” GAA variant
Keywords: NBS; Newborn screening; IOPD; Infantile onset Pompe disease; LOPD; Late onset Pompe disease; GAA; Acid α-glucosidase; ERT; Enzyme replacement therapy; RUSP; Recommended uniform screening panel; CK; Creatine kinase; Glc4; Urinary glucose tetrasaccharide;
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Keywords: VLCAD; very long chain acyl-CoA dehydrogenase; NBS; newborn screening; MCT; medium chain triglycerides; IBEM-IS; Inborn Errors of Metabolism Information System; RUSP; Recommended Uniform Screening Panel; CK; creatine kinase; HELLP syndrome; hemolysis, ele