Keywords: غربالگری نوزاد تازه متولد شده; United States; Expanded newborn screening; Informed decision; Reasoned action; Intentions; Theory of planned behavior;
مقالات ISI غربالگری نوزاد تازه متولد شده (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.
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
Keywords: غربالگری نوزاد تازه متولد شده; ADA-SCID; severe combined immunodeficiency due to adenosine-deaminase defect; SCID; severe combined immunodeficiency; ADA; adenosine deaminase; dAdo; 2-deoxyadenosine; ERT; enzyme replacement therapy; Ado; adenosine; TRECs; T-cell receptor excision circle
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Keywords: غربالگری نوزاد تازه متولد شده; SBCADD; short/branched chain acyl-CoA dehydrogenase deficiency; 2-MBCD; 2-methylbutyryl CoA dehydrogenase deficiency; C2; acetylcarnitine; C3; propionylcarnitine; C5; 2-methylbutyrylcarnitine or isovalerylcarnitine; IVA; isovaleric acidemia; MS/MS; tandem
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
Keywords: غربالگری نوزاد تازه متولد شده; Expanded newborn screening; FAH gene; Hong Kong Chinese; Inborn errors of metabolism; Novel mutation; Tyrosinemia type I
Parental attitudes on expanded newborn screening in Hong Kong
Keywords: غربالگری نوزاد تازه متولد شده; Expanded newborn screening; Hong Kong Chinese; Parental attitudes; Second generation
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening
Keywords: غربالگری نوزاد تازه متولد شده; 3-HMGD; 3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency (OMIM ID: 246450); 3-MCCD; 3-methylcrotonyl-CoA-dehydrogenase deficiency (OMIM IDs: 210200, 210210); 3-MGCHD; 3-methylglutaconyl-CoA hydratase deficiency (OMIM ID: 250950); ACMG; American College of
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening
Keywords: غربالگری نوزاد تازه متولد شده; Medium-chain acyl-CoA dehydrogenase deficiency; Expanded newborn screening; Maternal; Tandem mass spectrometry; MCADD; Maternal inborn error of metabolism
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
Keywords: غربالگری نوزاد تازه متولد شده; BD; biotinidase deficiency; CIT 1; type I citrullinaemia; FFA; free fatty acid; GA-1; type I glutaric aciduria; GALE; classical galactosaemia; GALK; galactokinase deficiency; HPA; hyperphenylalaninaemia; IEM; inborn errors of metabolism; IQ; Intellectual
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
Keywords: غربالگری نوزاد تازه متولد شده; Hypocitrullinemia; Expanded newborn screening; Ornithine transcarbamylase deficiency (OTCD); OTC gene; Molecular analysis;
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
Keywords: غربالگری نوزاد تازه متولد شده; Glutaric acidemia type II; Multiple acyl CoA dehydrogenase deficiency; Expanded newborn screening; Sudden death; Electron transfer flavoprotein; ETF-ubiquinone oxidoreductase
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Keywords: غربالگری نوزاد تازه متولد شده; Molecular diagnostics; Fatty acid oxidation defect; Expanded newborn screening; Genotype/phenotype correlation
Hereditary and acquired diseases of acyl-coenzyme A metabolism
Keywords: غربالگری نوزاد تازه متولد شده; Coenzyme A; Organic acids; Amino acid metabolism; Fatty acid metabolism; Inborn errors; Pathophysiology; Expanded newborn screening
Newborn screening: After the thrill is gone
Keywords: غربالگری نوزاد تازه متولد شده; Society for Inherited Metabolic Disorders; Acyl-CoA dehydrogenases; Isovaleric academia; Expanded newborn screening;