Keywords: غربالگری نوزادان; Newborn screening; Survey; Southeastern Europe;
مقالات ISI غربالگری نوزادان (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: غربالگری نوزادان; Congenital; Cytomegalovirus; Incidence; Newborn screening; Ireland;
Keywords: غربالگری نوزادان; Fatty acid oxidation; Very long chain acyl-CoA dehydrogenase deficiency; Neuropsychological assessment; Newborn screening; Developmental outcomes
Keywords: غربالگری نوزادان; Newborn screening; Cystic fibrosis; Genotype; Symptoms; Clinical condition;
Keywords: غربالگری نوزادان; Metachromatic leukodystrophy; Tandem mass spectrometry; Newborn screening; Dried blood spots; Lysosomal storage diseases; Urine; Sulfatides;
Keywords: غربالگری نوزادان; ASSC; Acute splenic sequestration crisis; HbF; Fetal hemoglobin; HbS; Sickle hemoglobin; HbSS; Hemoglobin SS; NBS; Newborn screening; SCA; Sickle cell anemia;
Keywords: غربالگری نوزادان; Free sialic acid; Lysosomal storage disorder; Neurodegenerative disorders; Newborn screening; SLC17A5 genecDNA, DNA complementary to RNA; CHX, cycloheximide; DBS, dried blood spots; ESI-MS/MS, electro spray ionization tandem mass spectrometry; ISSD, infan
Keywords: غربالگری نوزادان; 17OHP; 17-hydroxyprogesterone; CAH; Congenital adrenal hyperplasia; FIA; Fluoroimmunoassay; FN; False negative; FP; False positive; FPR; False positive rate; LC-MS/MS; Liquid chromatography-tandem mass spectrometry; NBS; Newborn screening; NICU; Neonatal
Keywords: غربالگری نوزادان; Cystic fibrosis; Sweat; Electrolytes; Newborn screening;
Keywords: غربالگری نوزادان; ABR; auditory brainstem response; CMV; cytomegalovirus; HI; hearing impairment; IUGR; intrauterine growth restriction; LSV; lenticulstriate vasculopathy; rT-PCR; real-time polymerase chain reaction; SNHL; sensory neural hearing loss; TEAOE; transient evok
Keywords: غربالگری نوزادان; Glutaric acidemia type 1; Inborn errors of metabolism; Egypt; Genetics; Consanguinity; Newborn screening
Keywords: غربالگری نوزادان; Orotic acid; Ornithine transcarbamylase deficiency; Urea cycle defects; Newborn screening;
Keywords: غربالگری نوزادان; Qualitative; Retrospective; Interview; Infants; Parents; Children with special health care needs; Chronic conditions; Congenital adrenal hyperplasia; Health literacy; Social support; Endocrinology; Newborn screening; Medical home; Decision support; Disord
Keywords: غربالگری نوزادان; Emotion measurement; Linguistic analysis; LIWC; Newborn screening; Sickle cell carriers; Parental anxiety
Keywords: غربالگری نوزادان; NBS; newborn screening; TMS; tandem mass spectrometry; DBS; dried blood spots; OA; organic acidaemias; PA; propionic acidaemia; IVA; isovaleric acidaemia; MMA; methylmalonic acidaemia; UCD; urea cycle disorders; CIT-I; argininosuccinate synthetase deficie
Keywords: غربالگری نوزادان; administrative claims; case identification; children; Medicaid; newborn screening; sickle cell disease
Keywords: غربالگری نوزادان; Newborn screening; Lysosomal storage disease; Fabry disease; Pompe disease; Gaucher disease; Tandem mass spectrometry
Keywords: غربالگری نوزادان; Cystic fibrosis; Newborn screening; Cost effectiveness; Immune-reactive trypsinogen (IRT); Pancreatic-associated protein (PAP); CFTR; Simulation;
Keywords: غربالگری نوزادان; CF; cystic fibrosis; NBS; newborn screening; ADHD; attention deficit hyperactivity; RCT; randomized control trial; IRB; Institutional Review Board; BASC-2; Behavioral Assessment System for Children - Second Edition; PRQ; Parenting Relationship Questionn
Keywords: غربالگری نوزادان; Automated high-throughput mass spectrometry; Mucopolysaccharidoses; Heparan sulfate; Biomarker; Newborn screening;
Keywords: غربالگری نوزادان; Purine nucleoside phosphorylase; severe combined immunodeficiency; newborn screening; tandem mass spectrometry; late-onset; delayed-onset; purine nucleoside phosphorylase-combined immunodeficiency; T-cell receptor excision circle; inherited disorder; AC
Keywords: غربالگری نوزادان; Newborn screening; LC–MS/MS; Tandem mass spectrometry; Inborn errors of metabolism; Clinical chemistry
Keywords: غربالگری نوزادان; Newborn screening; Very-long chain acyl-CoA dehydrogenase deficiency; False positive; Clinical outcome research; VLCADD;
Keywords: غربالگری نوزادان; Nurse champion; newborn screening; critical congenital heart disease; pulse oximetry;
Keywords: غربالگری نوزادان; Newborn screening; Cystic fibrosis; False positive; Parental knowledge; Parental feelings
Keywords: غربالگری نوزادان; Newborn screening; Barriers; Sustainable; Developing countries
Keywords: غربالگری نوزادان; 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: غربالگری نوزادان; newborn screening; congenital hypothyroidism; central (secondary) congenital hypothyroidism; “gland-in-situ”; TSH cutoff; neurodevelopment; cost-effectiveness
Keywords: غربالگری نوزادان; Metabolic myopathy; Hypotonia; Autosomal recessive; Enzyme replacement therapy; Newborn screening; Lysosomal glycogen storage disease;
Keywords: غربالگری نوزادان; Newborn screening; Cystic fibrosis; Carrier; DNA analysis; Focus group;
Keywords: غربالگری نوزادان; G6PD; glucose-6-phosphate-dehydrogenase; ROC; receiver operating characteristic; ARMS; amplification refractory mutation system; G6PD deficiency; Newborn screening; Cut-off value; Heterozygotes; Female;
Keywords: غربالگری نوزادان; NBS; Newborn screening; SERC; Southeast NBS and Genetics Regional Collaborative;
Keywords: غربالگری نوزادان; FT4; Free thyroxine; LTFU; Lost-to-follow-up; MDCH; Michigan Department of Community Health; NBS; Newborn screening; NICU; Neonatal intensive care unit; TSH; Thyroid-stimulating hormone;
Keywords: غربالگری نوزادان; Congenital adrenal hyperplasia; 17-Hydroxyprogesterone; 21-Hydroxylase deficiency; Newborn screening; SUMA;
Keywords: غربالگری نوزادان; Family testing; Carrier; Cystic fibrosis; 1-in-4 risk couple; Newborn screening;
Keywords: غربالگری نوزادان; Mitochondrial long chain fatty acid oxidation disorders; Very-long-chain acyl-CoA dehydrogenase deficiency; Newborn screening; Mitochondrial energy metabolism;
Keywords: غربالگری نوزادان; Newborn screening; Quality Improvement; Physician-patient communication;
Keywords: غربالگری نوزادان; Cystic fibrosis; Genetic knowledge; Newborn screening;
Keywords: غربالگری نوزادان; CF; Cystic fibrosis; CFTR; CF transmembrane conductance regulator; COR; Clinician of record; FTE; Full-time equivalent; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; PCP; Primary care provider;
Keywords: غربالگری نوزادان; IEM; inborn errors of metabolism; NIH; National Institutes of Health; ODS; Office of Dietary Supplements; ORDR; Office of Rare Diseases Research; HRSA; Health Resources and Services Administration; PKU; phenylketonuria; PAH; phenylalanine hydroxylase; PHE
Keywords: غربالگری نوزادان; Beta-thalassemia; G6PD deficiency; PKU; NSHL; MALDI-TOF MS; Newborn screening
Keywords: غربالگری نوزادان; Newborn screening; Congenital adrenal hyperplasia (CAH); Urine sample on paper; Pregnanetriolone
Keywords: غربالگری نوزادان; Glutaric aciduria type I; GCDH; Splice site mutation; Newborn screening
Keywords: غربالگری نوزادان; Flow-injection analysis; Tandem mass spectrometry; Newborn screening; Dried blood spot; X-linked adrenoleukodystrophy
Keywords: غربالگری نوزادان; congenital heart defect; critical congenital heart disease; newborn screening; pulse oximetry
Keywords: غربالگری نوزادان; Immunology; primary immunodeficiency; nuclear factor κB; autoimmunity; intravenous immunoglobulin; common variable immunodeficiency; severe combined immunodeficiency; newborn screening; gene therapy; ADA; Adenosine deaminase; ADAM; A disintegrin and meta
High incidence of low vitamin B12 levels in Estonian newborns
Keywords: غربالگری نوزادان; Newborn screening; Tandem mass spectrometry; Congenital vitamin B12 deficiency; Elevated propionylcarnitine; NBS; newborn screening; MMA; methylmalonic acid; tHcy; total homocysteine; MS; mass spectrometry; DBS; dried blood spots; C3; propionylcarnitine;
Le dépistage néonatal en France : approche biologique
Keywords: غربالگری نوزادان; centre régional de dépistage néonatal; dépistage néonatal; tache de sang séché; dried blood spot; newborn screening; regional center of newborn screening;
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
Keywords: غربالگری نوزادان; TPP1; PPT1; NCL1; NCL2; pH optimum; Newborn screening;
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico
Keywords: غربالگری نوزادان; Diminished fetal movements; Enterocolitis; Newborn screening; Tetrahydrobiopterin (BH4) deficiency;