Results 31 to 40 of about 1,606,043 (303)

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

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

IJNS Turns Seven—High Impact for Neonatal Screening

, 2021
Since our inaugural issue in 2015, the International Journal of Neonatal Screening (IJNS) has solidified its position as the preferred platform to publish the scientific output of the members of the International Society of Neonatal screening (ISNS) and ...
Ralph Fingerhut, Peter C. J. I. Schielen
core   +1 more source

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

Low incidence of toxoplasma infection during pregnancy and in newborns in Sweden [PDF]

, 2001
To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40978 children born in two regions in Sweden was determined.
Petersson, K, Wiklund, Sven,, Gilbert, R, Tear-Fahnehjelm, K, Wiklund, S, Evengard, B, Engman, ML, Malm, G, Wiklund, Sven, Forsgren, M, Pettersson, K, Lund University., Ivarsson, SA, Malm, G,   +13 more
core   +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

Retinopathy of prematurity in English neonatal units: a national population-based analysis using NHS operational data.

, 2014
OBJECTIVES: To report on retinopathy of prematurity (ROP) screening compliance against a national guideline, factors associated with non-compliance and effect on ROP treatment.
Watkinson, M, UK Neonatal Collaborative,, Modi, N, Statnikov, Y, Gray, D, Wong, HS, Santhakumaran, S, UK Neonatal Collaborative,    +7 more
core   +2 more sources

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 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