Results 41 to 50 of about 2,182,083 (430)

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

The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

International Journal of Neonatal Screening, 2019
Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease ...
A. Silva-Pinto, Maria Cândida Alencar de Queiroz, Paula Juliana Antoniazzo Zamaro, M. Arruda, H. Pimentel dos Santos   +4 more
semanticscholar   +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 for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Genetics and Molecular Biology, 2018
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these
E. Camargo Neto, J. Schulte, Jamile Pereira, H. Bravo, Claudio Sampaio-Filho, R. Giugliani   +5 more
semanticscholar   +1 more source

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

Journal of Community Genetics, 2020
Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS’s primary aim is health gain for children,
M. Cornel, T. Rigter, M. Jansen, L. Henneman   +3 more
semanticscholar   +1 more source

A cry for help: Early detection of brain injury in newborns [PDF]

arXiv, 2023
Since the 1960s, neonatal clinicians have known that newborns suffering from certain neurological conditions exhibit altered crying patterns such as the high-pitched cry in birth asphyxia. Despite an annual burden of over 1.5 million infant deaths and disabilities, early detection of neonatal brain injuries due to asphyxia remains a challenge ...
arxiv  

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia-Oliveira, LM, Buffolano, W, European Multicentre Study on Congenital Toxoplasmosis (EMSCOT),, Freeman, K, Gilbert, RE, Lago, EG, Petersen, E, Stanford, MR, Tan, HK, Wallon, M   +9 more
core   +3 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

European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives

International Journal of Neonatal Screening, 2018
Neonatal screening programmes have been introduced in almost all European countries. In practice there are large differences, especially in the panel of conditions that are screened for, often without clear reasons.
J. Loeber
semanticscholar   +1 more source

Classification of Lung Pathologies in Neonates using Dual Tree Complex Wavelet Transform [PDF]

arXiv, 2023
Annually 8500 neonatal deaths are reported in the US due to respiratory failure. Recently, Lung Ultrasound (LUS), due to its radiation free nature, portability, and being cheaper is gaining wide acceptability as a diagnostic tool for lung conditions. However, lack of highly trained medical professionals has limited its use especially in remote areas ...
arxiv