Results 11 to 20 of about 131,687 (292)

Neonatal hearing screening

Bangladesh Journal of Otorhinolaryngology, 1970
DOI: 10.3329/bjo.v16i1.5782Bangladesh J Otorhinolaryngol 2010; 16(1): 54 ...
Nasima Akhtar, Pran Gopal Datta, Md. Alauddin, Nazma Kamal   +3 more
openalex   +3 more sources

Embracing the future: Neonatal screening for epileptic syndromes. [PDF]

Epilepsia
Nabbout R, Kuchenbuch M.
europepmc   +3 more sources

Neonatal hearing screening [PDF]

Early Human Development, 1996
Severe congenital hearing impairment is an important handicap affecting 0.1% of live-born infants and 1%-2% of graduates of Neonatal Intensive Care Units. The prognosis for intellectual, emotional, language and speech development in the hearing-impaired child is improved when the diagnosis is made early and intervention is begun before the age of 6 ...
A M, Oudesluys-Murphy, H L, van Straaten, R, Bholasingh, G A, van Zanten   +3 more
openaire   +2 more sources

Delivery Modality Affect Neonatal Levels of Inflammation, Stress, and Growth Factors

Frontiers in Pediatrics, 2021
Introduction: As part of the study CODIBINE, Correlations and Diagnoses for Biomarkers in New-borns, the main objective of the study was to explore neonatal inflammation, stress, neurodevelopment, and growth factors after in-labor and pre-labor cesarean ...
Pia Kiilerich, Rikke Cortes, Ulrik Lausten-Thomsen, Nis Borbye-Lorenzen, Solveig Holmgaard, Kristin Skogstrand   +5 more
doaj   +1 more source

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited.
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang   +6 more
doaj   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
doaj   +1 more source

Implementation of SCID Screening in Denmark

International Journal of Neonatal Screening, 2021
Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.
Marie Bækvad-Hansen, Dea Adamsen, Jonas Bybjerg-Grauholm, David Michael Hougaard   +3 more
doaj   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2018

International Journal of Neonatal Screening, 2019
Rigorous peer-review is the corner-stone of high-quality academic publishing[...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

BMC Medical Genetics, 2018
Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the ...
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu   +5 more
doaj   +1 more source

Neonatal screening [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Educational Items on Neonatal screening.
Dallaire, L, Huret, JL
openaire   +2 more sources