Risk factors for Down syndrome
F Coppedè - Archives of toxicology, 2016 - Springer
Down syndrome (DS) originates, in most of the cases (95%), from a full trisomy of
chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or …
chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or …
Down syndrome: Neurobiological alterations and therapeutic targets
Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human
chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental …
chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental …
Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies
CTA Ginani, JRD da Luz, KS de Medeiros… - … Research/Reviews in …, 2023 - Elsevier
Background Several studies around the world support the hypothesis that genetic
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …
[HTML][HTML] Systematic review and meta-analysis shows a specific micronutrient profile in people with Down Syndrome: Lower blood calcium, selenium and zinc, higher …
A Saghazadeh, M Mahmoudi, A Dehghani Ashkezari… - PloS one, 2017 - journals.plos.org
Different metabolic profiles as well as comorbidities are common in people with Down
Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with …
Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with …
[HTML][HTML] CHDH, a key mitochondrial enzyme, plays a diagnostic role in metabolic disorders diseases and tumor progression
Y Li, X Shen, X Yang, F Lian, Y Li, J Li, Y Huang… - Frontiers in …, 2023 - frontiersin.org
Human choline dehydrogenase (CHDH) is a transmembrane protein located in
mitochondria. CHDH has been shown to be one of the important catalytic enzymes that …
mitochondria. CHDH has been shown to be one of the important catalytic enzymes that …
Features of folate cycle disorders in children with ASD
DV Maltsev - Bangladesh Journal of Medical Science, 2020 - search.proquest.com
Aim: to show the effect of genetically determined folate cycle deficiency in children with
autism spectrum disorders (ASD). Participants: 89 children (57 boys; 32 girls, Ukraine, 2-10 …
autism spectrum disorders (ASD). Participants: 89 children (57 boys; 32 girls, Ukraine, 2-10 …
Maternal biomarkers for early prediction of the neural tube defects pregnancies
U Yadav, P Kumar, V Rai - Birth Defects Research, 2021 - Wiley Online Library
Background Neural tube defects (NTD) are one of the most common congenital birth defects.
The reason for the NTD cause is still not completely known, but it is believed that some …
The reason for the NTD cause is still not completely known, but it is believed that some …
Changes of serum homocysteine levels during pregnancy and the establishment of reference intervals in pregnant Chinese women
Y Yang, H Jiang, A Tang, Z Xiang - Clinica Chimica Acta, 2019 - Elsevier
Abstract Backgroud Reference intervals (RIs) of clinical laboratory indexes are important
basis for interpretation of corresponding test results. While elevated homocysteine (HCY) …
basis for interpretation of corresponding test results. While elevated homocysteine (HCY) …
Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China
L Jiajin, C Shuyan, W Ying, C Junxiao… - The Journal of Maternal …, 2019 - Taylor & Francis
Objective: To assess the association between maternal gene polymorphisms of the enzymes
involved in folate metabolism and the risk of having a Down syndrome (DS) offspring in …
involved in folate metabolism and the risk of having a Down syndrome (DS) offspring in …
[HTML][HTML] MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of Down syndrome
R Kedar, D Chandel - Egyptian Journal of Medical Human Genetics, 2019 - Springer
Background Our aim was to evaluate the influence of methylenetetrahydrofolate reductase
(MTHFR) gene polymorphism on maternal risk for Down syndrome (DS) and observe the …
(MTHFR) gene polymorphism on maternal risk for Down syndrome (DS) and observe the …