Function, detection and alteration of acylcarnitine metabolism in hepatocellular carcinoma

S Li, D Gao, Y Jiang - Metabolites, 2019 - mdpi.com
Acylcarnitines play an essential role in regulating the balance of intracellular sugar and lipid
metabolism. They serve as carriers to transport activated long-chain fatty acids into …

[HTML][HTML] A decision support scheme for beta thalassemia and HbE carrier screening

R Das, S Datta, A Kaviraj, SN Sanyal, P Nielsen… - Journal of advanced …, 2020 - Elsevier
The most effective way to combat β-thalassemias is to prevent the birth of children with
thalassemia major. Therefore, a cost-effective screening method is essential to identify β …

Biochemical phenotyping of paroxysmal nocturnal hemoglobinuria reveals solute carriers and β-oxidation deficiencies

PE Yamakawa, AR Fonseca, IDC Guerreiro da Silva… - PLoS …, 2023 - journals.plos.org
Introduction Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal disease of
hematopoietic cells with a variable clinical spectrum characterized by intravascular …

Investigating the reasons for marriage among couples with thalassemia minor, in Iran

F Hasanshahi, N Khanjani - Journal of Community Genetics, 2021 - Springer
Thalassemia is one of the most prevalent genetic disorders in Iran. The birth of a child with
thalassemia major is associated with many problems for the family, and society. In the …

Isotope Labeling Strategies for Acylcarnitines Profile in Biological Samples by Liquid Chromatography–Mass Spectrometry

S Li, D Gao, C Song, C Tan, Y Jiang - Analytical chemistry, 2019 - ACS Publications
Acylcarnitines are closely related to many metabolic diseases and likely to be good
biomarkers for clinical diagnosis. Studies on acylcarnitines may help deepen the …

Amniotic fluid metabolomic and lipidomic alterations associated with hemoglobin Bart's diseases

X Chen, H Chen, H Nie, G Li, J Su, X Cao, Y Cao… - Metabolomics, 2021 - Springer
Introduction α-Thalassemia is the most common inherited disease in southern China. The
severest form is hemoglobin (Hb) Bart's disease, in which the affected fetuses almost always …

Omics studies in hemoglobinopathies

E Katsantoni - Molecular Diagnosis & Therapy, 2019 - Springer
Hemoglobinopathies include all genetic diseases of hemoglobin and are grouped into
thalassemia syndromes and structural hemoglobin variants. The β-thalassemias constitute a …

Association of diverse population of red blood cells with different disease manifestations in patients with beta-thalassemia

MT Islam, N Sultana, SK Sarker, T Hossain, S Tasnim… - Meta Gene, 2021 - Elsevier
Different mutations in the beta-globin gene impose clinical heterogeneity in the affected
individuals, such as patients with Hb E disease are asymptomatic and non-transfusion …

Оценка показателей свободного и связанного карнитина у юных спортсменов

НВ Рылова, АС Самойлов… - Российский вестник …, 2023 - ped-perinatology.ru
Аннотация Исследование особенностей карнитинового обмена у представителей
отдельных видов спорта позволяет изучать воздействие различных по характеру …

Hematological analysis of anemic severity in beta thalassemia

SS Barno - 2018 - dspace.bracu.ac.bd
Beta thalassemia is an inherited blood disorder that affects synthesis of the beta chain in the
production of haemogoblin, leading to the production of deficient RBCs (red blood cells) that …