دانلود مقالات ISI درباره NBS، غربالگری نوزادان + ترجمه فارسی

یک صفحه نمایش تازه ی نوزاد یا غربالگری دوم معمول برای کم کاری تیروئید مادرزادی اولیه؟

Single newborn screen or routine second screening for primary congenital hypothyroidism

Keywords: NBS، غربالگری نوزادان; NBS, newborn screening; TSH, thyroid stimulating hormone; CH, congenital hypothyroidism; SACHDNC, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; APHL, Association of Public Health Laboratories; T4, thyroxine; BW, birth wei

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

ارتباط بالینی کمبود Acyl-CoA dehydrogenase (SCAD) با زنجیره کوتاه: بررسی نقش انواع جدید از جمله آلل عامل بیماری SCAD که جهش مترادف را حمل می کند

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation

Keywords: NBS، غربالگری نوزادان; SCAD, Short-chain acyl-CoA dehydrogenase; SCADD, Short-chain acyl-CoA dehydrogenase deficiency; C4-C, butyrylcarnitine; EMA, ethylmalonic acid; NBS, Newborn screening; LC–MS/MS, Tandem mass spectrometry; ACADS, Acyl CoA-deydrogenase, short chainACADS; SCA

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

Reduced Activity of 11β-Hydroxylase Accounts for Elevated 17α-Hydroxyprogesterone in Preterms

Keywords: NBS، غربالگری نوزادان; 17OHP, 17α-Hydroxyprogesterone; 21OHD, 21-Hydroxylase deficiency; CAH, Congenital adrenal hyperplasia; GC-MS, Gas chromatography–mass spectrometry; NBS, Newborn screening; PTO, Pregnanetriolone; THE, Tetrahydrocortisone; THS, Tetrahydro-11-deoxycortisol

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Maternal vitamin B12 deficiency detected in expanded newborn screening

Keywords: NBS، غربالگری نوزادان; DBS, dried blood spot; Holo-TC, holo-transcobalamin; Hcy, homocysteine; MMA, methylmalonic acid; NBS, newborn screening; C3, propionyl carnitine; cbl, cobalamin; THF, tetrahydrofolate; MTHF, methyltetrahydrofolateVitamin B12 deficiency; Newborn screening;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant

Keywords: NBS، غربالگری نوزادان; DS, discovery studio; FAD, flavin adenine dinucleotide; GC/MS, gas chromatography mass spectrometry; IVA, isovaleric acidemia; IVD, isovaleryl-CoA dehydrogenase; MS/MS, tandem mass spectrometry; NBS, newborn screening; WT, wild-typeIsovaleric acidemia; Is

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Keywords: NBS، غربالگری نوزادان; MPSs, mucopolysaccharidoses; LSDs, lysosomal storage disorders; GAGs, glycosaminoglycans; HSCT, hematopoietic stem cell transplantation; ERT, enzyme replacement therapy; MPS IIIA, mucopolysaccharidosis type III A; NBS, newborn screening; DBS, dried blood

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

The Wisconsin approach to newborn screening for severe combined immunodeficiency

Keywords: NBS، غربالگری نوزادان; Severe combined immunodeficiency; T-cell receptor excision circle; lymphopenia; newborn screeningAGA, Adjusted gestational age; HCT, Hematopoietic cell transplantation; NBS, Newborn screening; NK, Natural killer; RAC2, RAS-related C3 botulinum toxin subst

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Congenital Hypothyroidism with a Delayed Thyroid-Stimulating Hormone Elevation in Very Premature Infants: Incidence and Growth and Developmental Outcomes

Keywords: NBS، غربالگری نوزادان; CH, Congenital hypothyroidism; ELBW, Extremely low birth weight; NBS, Newborn screening; TSH, Thyroid-stimulating hormone; T4, Thyroxine; VLBW, Very low birth weight

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing

Keywords: NBS، غربالگری نوزادان; ACADVL, Gene symbol for very long-chain acyl-CoA dehydrogenase; VLCAD, Very long-chain acyl-CoA deyhdrogenase; VLCADD, Very long-chain acyl-CoA dehydrogenase deficiency; MS/MS, Tandem mass spectrometry; NBS, Newborn screening

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Keywords: NBS، غربالگری نوزادان; ADG, age at diagnosis; CF, cystic fibrosis; CFTR, gene for the cystic fibrosis transmembrane conductance regulator protein; CZ, Czech Republic; IE, incidence estimate; IRT, immunoreactive trypsinogen; NBS, newborn screening; NBSR, newborn screening referr

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

A New Cystic Fibrosis Newborn Screening Algorithm: IRT/IRT1↑/DNA

Keywords: NBS، غربالگری نوزادان; ACMG, American College of Medical Genetics; CF, Cystic fibrosis; CFTR, Cystic fibrosis transmembrane conductance regulator; IRT, Immunoreactive trypsinogen; NBS, Newborn screening

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond

Keywords: NBS، غربالگری نوزادان; CF, Cystic fibrosis; CFTR, Cystic fibrosis transmembrane conductance regulator; CRMS, CFTR-related metabolic syndrome; NBS, Newborn screening; PCP, Primary care provider; PS, Pancreatic sufficient; RSV, Respiratory syncytial virus; TG, Thymidine-guanine

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2009 سفارش ترجمه

Time Trends in Birth Incidence of Cystic Fibrosis in Two European Areas: Data from Newborn Screening Programs

Keywords: NBS، غربالگری نوزادان; AAPC, Average annual percent change; CF, Cystic fibrosis; CFTR, Cystic fibrosis transmembrane regulator conductance; CI, Confidence interval; IRT, Immunoreactive trypsinogen; NBS, Newborn screening; PD, Prenatal diagnosis

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Keywords: NBS، غربالگری نوزادان; ACMG, American College of Medical Genetics; CF, Cystic fibrosis; CFTR, Cystic fibrosis transmembrane conductance regulator; CT, Computed tomography; IRT, Immunoreactive trypsinogen; NBS, Newborn screening; NPD, Nasal potential difference; PCP, Primary car

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2008 سفارش ترجمه

Potential impact of newborn screening for cystic fibrosis on child survival: A systematic review and analysis

Keywords: NBS، غربالگری نوزادان; CDC, Centers for Disease Control and Prevention; CF, Cystic fibrosis; CFFPR, Cystic Fibrosis Foundation Patient Registry; MI, Meconium ileus; NBS, Newborn screening; PY, Person years; RCT, Randomized controlled trials; SCD, Sickle cell disease

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه