Works matching Newborn screening
Results: 5000
Psychological and Ethical Challenges of Introducing Whole Genome Sequencing into Routine Newborn Screening: Lessons Learned from Existing Newborn Screening.
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- New Bioethics, 2023, v. 29, n. 1, p. 52, doi. 10.1080/20502877.2022.2124582
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- Article
Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta-analysis.
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- Experimental & Therapeutic Medicine, 2024, v. 28, n. 3, p. 1, doi. 10.3892/etm.2024.12654
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- Article
Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.
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- BioScience Trends, 2024, v. 18, n. 4, p. 303, doi. 10.5582/bst.2024.01178
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- Article
Newborn Screening Collection and Delivery Processes in Michigan Birthing Hospitals: Strategies to Improve Timeliness.
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- Maternal & Child Health Journal, 2018, v. 22, n. 10, p. 1436, doi. 10.1007/s10995-018-2524-z
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- Article
OVERVIEW OF DUHOK/IRAQ PROJECT OF EXPANDED NEWBORN SCREENING.
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- Military Medical Science Letters / Vojenské zdravotnické Listy, 2024, v. 93, n. 1, p. 39, doi. 10.31482/mmsl.2022.057
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- Article
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 24, doi. 10.3390/ijns10010024
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- Article
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 63, doi. 10.3390/ijns9040063
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- Article
Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic.
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 19, doi. 10.3390/ijns9020019
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- Article
Newborn Screening Is on a Collision Course with Public Health Ethics.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 51, doi. 10.3390/ijns8040051
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- Article
Interdisciplinary approach to design, performance, and quality management in a multicenter newborn hearing screening project. Discussion of the results of newborn hearing screening in Hamburg (part II).
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- 2010
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- Publication type:
- journal article
THE IMPORTANCE OF NEWBORN SCREENING FOR THE DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA: LITERATURE REVIEW.
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- Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 9, p. 1, doi. 10.54751/revistafoco.v16n9-035
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- Article
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan.
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- Neurological Sciences, 2022, v. 43, n. 7, p. 4563, doi. 10.1007/s10072-022-06128-2
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- Article
ETHICAL ISSUES IN NEWBORN SCREENING.
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- Revista Romana de Bioetica, 2014, v. 12, n. 1, p. 65
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- Article
Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa.
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- African Journal of Laboratory Medicine, 2023, v. 12, n. 1, p. 1, doi. 10.4102/ajlm.v12i1.2225
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- Article
Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
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- Brain Sciences (2076-3425), 2019, v. 9, n. 1, p. 4, doi. 10.3390/brainsci9010004
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- Article
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
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- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070968
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- Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
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- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 951, doi. 10.3390/biom11070951
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- Article
Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK.
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- Haemophilia, 2019, v. 25, n. 2, p. 276, doi. 10.1111/hae.13706
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- Article
Newborn screening for severe combined immunodeficiency—Coming to a region near you soon.
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- Clinical & Experimental Immunology, 2021, v. 205, n. 3, p. 343, doi. 10.1111/cei.13642
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- Article
The Effectiveness and Cost Analysis of a Pilot Newborn Hearing Screening Program at a Hospital in a Low- to Middle-Income Country.
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- Journal of International Advanced Otology, 2024, v. 20, n. 6, p. 477, doi. 10.5152/iao.2024.231109
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- Article
Newborn Hearing Screening: Early Ear Examination Improves the Pass Rate.
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- Journal of International Advanced Otology, 2023, v. 19, n. 5, p. 402, doi. 10.5152/iao.2023.22987
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- Article
Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 1, p. 223, doi. 10.1111/ijlh.13687
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- Article
Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 3, p. 410, doi. 10.1111/ijlh.12303
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- Article
Prenatal and newborn screening for hemoglobinopathies.
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- International Journal of Laboratory Hematology, 2013, v. 35, n. 3, p. 297, doi. 10.1111/ijlh.12076
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- Article
Top 10 Things You Need to Know About Newborn Hearing Screening and Childhood Hearing Loss.
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- Journal of the Mississippi State Medical Association, 2021, v. 62, n. 3, p. 64
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- Article
Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country.
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- 2020
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- Publication type:
- journal article
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
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- 2016
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- journal article
Newborn screening: A way forward for a healthy nation.
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- Indian Practitioner, 2024, v. 77, n. 11, p. 11
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- Publication type:
- Article
Analysis of the Referral Rates of Newborn Hearing Screening Test According to Childbirth Delivery Methods in Neonatal Care Units.
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- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2923, doi. 10.3390/jcm10132923
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- Article
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1016
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- Article
FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.915
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- Article
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1023, doi. 10.3390/jpm12071023
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- Article
Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania.
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- International Health (1876-3413), 2019, v. 11, n. 6, p. 589, doi. 10.1093/inthealth/ihz028
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- Article
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure.
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- 2018
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- Publication type:
- journal article
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03532-7
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- Article
A global perspective on newborn congenital hypothyroidism screening.
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- Baylor University Medical Center Proceedings, 2020, v. 33, n. 1, p. 137, doi. 10.1080/08998280.2019.1668715
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- Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
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- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
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- Article
Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.
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- Diagnostics (2075-4418), 2020, v. 10, n. 5, p. 294, doi. 10.3390/diagnostics10050294
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- Article
Newborn Screening Samples for Diabetes Research: An Underused Resource.
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- Cells (2073-4409), 2020, v. 9, n. 10, p. 2299, doi. 10.3390/cells9102299
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- Article
Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.999664
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- Article
Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
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- Frontiers in Immunology, 2022, v. 12, p. 1, doi. 10.3389/fimmu.2021.794221
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- Article
Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening.
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- Journal of Medical Screening, 2021, v. 28, n. 2, p. 93, doi. 10.1177/0969141320937725
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- Article
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
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- Journal of Medical Screening, 2020, v. 27, n. 3, p. 115, doi. 10.1177/0969141319892298
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- Article
Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
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- Journal of Medical Screening, 2019, v. 26, n. 2, p. 67, doi. 10.1177/0969141318797373
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- Article
Molecular picture of cobalamin C/D defects before and after newborn screening era.
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- Journal of Medical Screening, 2017, v. 24, n. 1, p. 6, doi. 10.1177/0969141316641149
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- Article
Inheritance of β Hemoglobin Gene Mutation: Potential Method of Newborn Screening of Sickle Cell Anemia in Bangladesh.
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- Journal of Clinical & Experimental Investigations, 2022, v. 13, n. 2, p. 1, doi. 10.29333/jcei/11706
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- Article
The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.
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- Genes, 2024, v. 15, n. 12, p. 1570, doi. 10.3390/genes15121570
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- Article
A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease—Results from Six Years of Genetic Newborn Screening.
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- Genes, 2024, v. 15, n. 11, p. 1467, doi. 10.3390/genes15111467
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- Article
Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.
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- 2022
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- Case Study
Evaluation of The Effectiveness of Newborn Hearing Screening Program: A Center in Turkey.
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- International Journal of Early Childhood Special Education, 2019, v. 11, n. 2, p. 141, doi. 10.20489/intjecse.670470
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- Article