Keywords: غربالگری نوزادان; Newborn screening; Ornithine transcarbamylase deficiency; Urea cycle disorder; False positives; Region 4 Stork;
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; genetic screening; hemoglobin Bart's; hemoglobinopathy; CBC; Complete blood count; Hb H; Hemoglobin H; NBS; Newborn screening;
Keywords: غربالگری نوزادان; Isobutyryl-CoA dehydrogenase deficiency; ACAD8; Newborn screening; 3D crystal structure; Valine catabolism; IBDHD; Isobutyryl-CoA dehydrogenase deficiency; NBS; Newborn screening; MS/MS; Tandem mass spectrometry; NGS; Next-generation sequencing; PCR; Poly
Keywords: غربالگری نوزادان; Sickle cell anemia; Vaso-occlusive crisis; Mortality; Newborn screening; Survival;
Keywords: غربالگری نوزادان; Congenital cytomegalovirus infections; Sensorineural hearing loss; Newborn screening; Maternal immunity; Prevention;
Keywords: غربالگری نوزادان; Carrier screening; Expanded carrier screening; Family history-based screening; Ethnic and founder screening; Newborn screening; Whole exome-based screening;
Keywords: غربالگری نوزادان; Galactokinase deficiency; Newborn screening; Total galactose; Positive predictive value; CDC; Center of disease control and prevention; COV; Cut-off value; DBS; Dried blood spots; GALE; UDP-galactose-4-epimerase; GALK; Galactokinase; GALT; Galactose-1-pho
Keywords: غربالگری نوزادان; Fabry disease; Newborn screening; Cardiomyopathy; Enzyme replacement therapy;
Keywords: غربالگری نوزادان; AUC; Area under the curve; IVH; Intraventricular hemorrhage; NBS; Newborn screening; NRN; Neonatal Research Network; ROC; Receiver operating curve; TPN; Total parenteral nutrition;
Keywords: غربالگری نوزادان; chronic kidney disease; dialysis; end-stage kidney disease; metabolomics; newborn screening; pediatric; renal failure;
Keywords: غربالگری نوزادان; Lysosomal storage disorder; lysosomal storage disease; lysosomal enzyme disorder; newborn screening;
Keywords: غربالگری نوزادان; CF; cystic fibrosis; CFTR; cystic fibrosis transmembrane conductance regulator; CRD; Centre of Research and Dissemination; DNA; deoxyribonucleic acid; HAS; Haute Autorité de Santé; HTA; health technology assessment; ICER; incremental cost effectiveness
Keywords: غربالگری نوزادان; CAH; congenital adrenal hyperplasia; NBS; newborn screening; TAT; turnaround time; LC-MS/M; liquid chromatography and tandem-mass spectrometry; 17-OHP; 17-hydroxy-progesterone; EDTA; ethylenediaminetetraacetic acid; 21OHyD; 21-hydroxylase deficiency; LoD;
Keywords: غربالگری نوزادان; Inborn errors of metabolism; Newborn screening; Tandem mass spectroscopy;
Keywords: غربالگری نوزادان; Newborn screening; Next generation sequencing; Inborn errors of metabolism; Incidence;
Keywords: غربالگری نوزادان; Attitudes; Hearing loss; Newborn screening; Parent perceptions; Program review; Survey;
Keywords: غربالگری نوزادان; ALT; alanine transaminase; AMH; anti-Müllerian hormone; AST; aspartate transaminase; ATP; adenosine triphosphate; DG; Duarte galactosemia; FSH; follicle-stimulating hormone; Gal-1-P; galactose-1-phosphate; GALE; UDP-galactose 4-epimerase; GALK; galactoki
Keywords: غربالگری نوزادان; MPS diagnosis; Glycosaminoglycan assay; Enzyme assay; Newborn screening; Next-generation sequencing;
Keywords: غربالگری نوزادان; ethnic variation; haemoglobinopathies; newborn screening; sickle cell disease; thalassaemia;
Keywords: غربالگری نوزادان; Inborn errors of metabolism (IEM); Gas chromatography/mass spectrometry (GC/MS); Organic acidemia; Aminoacidopathies; Newborn screening;
Keywords: غربالگری نوزادان; LSD; Newborn screening; Lysosomal storage disorder; Fabry disease; Pompe disease; Gaucher disease; Krabbe disease; Mucopolysaccharidosis type I; Niemann-Pick A/B;
Keywords: غربالگری نوزادان; Classical galactosemia; Newborn screening; Incidence; Prevalence; Galactose oxidation; Variants;
Keywords: غربالگری نوزادان; disability; registry; newborn screening; neurotropic; virus; development; ACPR; Australian Cerebral Palsy Register; ACT; Australian Capital Territory; cCMV; Congenital cytomegalovirus; CMV; Cytomegalovirus; CP; Cerebral palsy; NBSC; Newborn screening card
Keywords: غربالگری نوزادان; Lysosomal storage diseases; Newborn screening; Confirmatory diagnosis; Carrier; Pseudodeficiency; Brazil;
Keywords: غربالگری نوزادان; spinal muscular atrophy; willingness to pay; newborn screening; preferences;
Keywords: غربالگری نوزادان; Sickle cell disease; Hospital Admitting Department; Epidemiology; Health system; Newborn screening; Brazil; Doença falciforme; Serviço Hospitalar de Admissão de Pacientes; Epidemiologia; Sistema Ãnico de Saúde; Triagem neonatal; Brasil;
Keywords: غربالگری نوزادان; Sickle cell disease; Hospital Admitting Department; Epidemiology; Health system; Newborn screening; Brazil; Doença falciforme; Serviço Hospitalar de Admissão de Pacientes; Epidemiologia; Sistema Ãnico de Saúde; Triagem neonatal; Brasil;
Keywords: غربالگری نوزادان; Congenital hypothyroidism; Newborn screening; Neonatal screening; Thyrotropin; Hipotireoidismo congênito; Triagem de recém-nascidos; Triagem neonatal; Tirotropina;
Keywords: غربالگری نوزادان; Preterm birth; Gestational age; Metabolomics; Newborn screening; Prediction modelling;
Keywords: غربالگری نوزادان; AST; aspartate aminotransferase; ALT; alanine aminotransferase; CFTR; cystic fibrosis transmembrane conductance regulator; GGT; gamma-glutamyltranspeptidase; ULN; upper limit of normal; Cystic fibrosis liver disease; Newborn screening;
Keywords: غربالگری نوزادان; inconclusive screening results; mixed methods; maternal experience; CF; Cystic fibrosis; CFTR; Cystic fibrosis transmembrane regulator; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; RR; Response rate;
Keywords: غربالگری نوزادان; immunoreactive trypsinogen; intestinal current measurement; nasal potential difference; newborn screening; sweat chloride; CF; Cystic fibrosis; CFFPR; CF Foundation Patient Registry; CFSPID; CF screen positive, inconclusive diagnosis; CFTR; CF transmembra
Keywords: غربالگری نوزادان; glutaric aciduria type 1; newborn screening; nystagmus; optic atrophy; Taiwan;
Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip
Keywords: غربالگری نوزادان; MALDI-ToF MS; Parylene-matrix chip; Newborn screening; Amino acid; Methanol extraction;
Keywords: غربالگری نوزادان; ACMG; American College of Medical Genetics; ARUP; Associated Regional and University Pathologists, Inc.; C0; dried blood spot free carnitine; CHOC Children's; Children's Hospital of Orange County; CTD; carnitine transporter defect; FP; false-positive; GA
Keywords: غربالگری نوزادان; ERT; enzyme replacement therapy; Gb3; Globotriaosylceramide; IVSd; diastolic interventricular septal thickness; LOD; limit of detection; LVIDd; diastolic left ventricular internal diameter; LVIDs; systolic left ventricular internal diameter; LVM; left ven
Keywords: غربالگری نوزادان; conjoint analysis; discrete choice experiment; information provision; newborn screening; outcomes; preferences; process;
Keywords: غربالگری نوزادان; genetic testing; maple syrup urine disease; metabolic disorders; newborn screening;
Keywords: غربالگری نوزادان; CF screen positive; inconclusive diagnosis; CFSPID; CFTR; CFTR-related metabolic syndrome; CRMS; ICD-10; ICM; immunoreactive trypsinogen; intestinal current measurement; IRT; nasal potential difference; newborn screening; sweat test; CDC; Centers for Dise
Keywords: غربالگری نوزادان; newborn screening; CF-screen positive, inconclusive diagnosis; CFTR-related metabolic syndrome; immunoreactive trypsinogen; intestinal current measurement; nasal potential difference; pancreatitis associated protein; sweat test; CF; Cystic fibrosis; CFSPI
Keywords: غربالگری نوزادان; organic acidemia; newborn screening; C3 acylcarnitine; nonketotic; hyperglycinemia; hyperammonemia; longitudinal follow up; natural; history; GI; Gastrointestinal; IBEM-IS; Inborn Errors of Metabolism Information System; NBS; Newborn screening; PA; Propio
Keywords: غربالگری نوزادان; CF screen positive, inconclusive diagnosis; CFTR-related metabolic syndrome; immunoreactive trypsinogen; intestinal current measurement; nasal potential difference; newborn screening; pancreatitis associated protein; sweat test; CF; Cystic fibrosis; CFFPR
Keywords: غربالگری نوزادان; Decision support system; Fuzzy inference system; Inborn error of metabolism; Newborn screening;
Keywords: غربالگری نوزادان; GC-MS; gas chromatography mass spectrometry; LC-MS; liquid chromatography mass spectrometry; CSF; Cerebrospinal fluid; IEM; inborn errors of metabolism; MALDI; matrix-assisted laser desorption ionization; SELDI; Surface-enhanced laser desorption/ionizatio
Keywords: غربالگری نوزادان; Children; Newborn screening; Early detection; Delayed diagnosis; Congenital hearing loss; Early-onset hearing loss; ANSD; auditory neuropathy spectrum disorder; dB; decibel; HL; hearing loss; IQR; interquartile range; JCIH; Joint Committee on Infant Heari
Keywords: غربالگری نوزادان; newborn screening; Duchenne muscular dystrophy; Pompe disease; spinal muscular atrophy; consent; ethics;
Keywords: غربالگری نوزادان; Cystic fibrosis; Newborn screening; Fecal elastase; CFSPID;
Keywords: غربالگری نوزادان; Hearing loss; Newborn; Newborn screening; Intensive care unitsPerda auditiva; Recém-nascido; Triagem neonatal; Unidades de Terapia Intensiva
Keywords: غربالگری نوزادان; CCHD; CCHD screening and pulse oximetry; infant; newborn screening;
Keywords: غربالگری نوزادان; Inherited metabolic disorders; Pakistan; Treatment; Antenatal testing; Newborn screening; Cascade screening