Results 1 to 10 of about 258,128 (359)

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 ...
H.L.M. van Straaten, Anne Marie Oudesluys-Murphy, R. Bholasingh, G.A. van Zanten   +3 more
openaire   +4 more sources

Neonatal screening for cystic fibrosis. [PDF]

Archives of Disease in Childhood, 1988
Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.
Bowling, F., Cleghorn, G.J., Chester, A., Curran, J., Griffin, B., Prado, J., Francis, P., Shepherd, R.   +7 more
openaire   +6 more sources

Neonatal Screening for the Hemochromatosis Defect [PDF]

Blood, 1997
To the Editor : Hereditary hemochromatosis (HC) is an autosomal recessive disorder of iron metabolism that is characterized by inappropriate iron absorption and storage of excess iron in the parenchymal cells of major organs, primarily the liver, pancreas, heart, pituitary, and joints.
Cullen, L. M., Summerville, L., Glassick, T. V., Crawford, D. H. G., Powell, L. W., Jazwinska, E. C.   +5 more
openaire   +4 more sources

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots [PDF]

International Journal of Neonatal Screening
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine
Peter C. J. I. Schielen, Dianne Webster, J. Gerard Loeber, James R. Bonham   +3 more
doaj   +2 more sources

Neonatal screening. [PDF]

Journal of Clinical Pathology, 1993
R. J. Pollitt
openaire   +4 more sources

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021

International Journal of Neonatal Screening, 2022
Rigorous peer-reviews are the basis of high-quality academic publishing [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020

International Journal of Neonatal Screening, 2021
Peer review is the driving force of journal development, and reviewers are gatekeepers who ensure that International Journal of Neonatal Screening maintains its standards for the high quality of its published papers [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022

International Journal of Neonatal Screening, 2023
High-quality academic publishing is built on rigorous peer review [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

BMC Medical Genetics, 2020
Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu   +7 more
doaj   +1 more source

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

Orphanet Journal of Rare Diseases, 2021
Background Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay. Results
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen   +7 more
doaj   +1 more source