Results 21 to 30 of about 147,877 (305)

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Pippa Grainger, Detlef Knoll, Grainger, Pippa, de Hora, Mark, Shannon Brothers, Dianne Webster, Webster, Dianne, Mark de Hora, Heather, Natasha, Knoll, Detlef, Brothers, Shannon, Natasha Heather   +11 more
core   +1 more source

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

Screening for hyperglycaemia in pregnancy : a rapid update for the National Screening Committee [PDF]

, 2010
Background Screening for gestational diabetes has long been a controversial topic. A previous Health Technology Assessment (HTA) report reviewed literature on screening for gestational diabetes mellitus (GDM) and assessed the case for screening against ...
P Royle, C Clar, Henderson, R., Cummins, E., N Waugh, Henderson, Rob, D Hadden, Royle, P., Clar, C., Lindsay, R. (Robert), Hadden, D. R., Cummins, E. (Ewen), HASH(0x55a67fd05ca0), E Cummins, Pearson, D., Waugh, Norman, Pearson, Donald, Hadden, D., R Henderson, Lindsay, R., D Pearson, Royle, Pamela, Waugh, N., R Lindsay   +23 more
core   +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

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. [PDF]

Int J Neonatal Screen
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs).
Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L.   +6 more
europepmc   +2 more sources

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Clinical Case Reports, 2018
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li, Xianze Meng, Weiqing Wang, Jinfeng Lv, Yingmei Sun, Yanan Lv, Caijuan Wang, Hongqin Wang, Mei Wang, Dongpo Song   +9 more
doaj   +1 more source

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Molecular Genetics & Genomic Medicine, 2021
Background Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland.
Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu   +5 more
doaj   +1 more source

Neonatal screening

The Turkish Journal of Pediatrics, 2003
Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities.
openaire   +3 more sources

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition [PDF]

, 2023
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison.
European CF Society Neonatal Screening Working Group (ECFS NSWG)
core  

Universal neonatal hearing screening moving from evidence to practice

, 2004
Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C.
core   +1 more source