Efstathia I. Paramera
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View article: <scp>YME1L1</scp> Dysfunction Associated With 3‐Methylglutaconic Aciduria
<span>YME1L1</span> Dysfunction Associated With 3‐Methylglutaconic Aciduria Open
3‐methylglutaconic aciduria (3‐MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders. Conditions manifesting 3‐MGCA are classified into two major categories, primary and secondary. Primary 3‐MGCAs involve two i…
View article: Identifying the metabolic profile of Hashimoto’s thyroiditis from the METHAP clinical study
Identifying the metabolic profile of Hashimoto’s thyroiditis from the METHAP clinical study Open
View article: Metabolomics-based treatment for chronic diseases: results from a multidisciplinary clinical study
Metabolomics-based treatment for chronic diseases: results from a multidisciplinary clinical study Open
Background Non-communicable diseases (NCDs), known as chronic diseases, significantly impact patients’ quality of life (QoL) and increase medical expenses. The majority of risk factors are modifiable, and metabolomics has been suggested as…
View article: Novel Fatty Acid Biomarkers in Psoriasis and the Role of Modifiable Factors: Results from the METHAP Clinical Study
Novel Fatty Acid Biomarkers in Psoriasis and the Role of Modifiable Factors: Results from the METHAP Clinical Study Open
Psoriasis is a chronic, immune-mediated skin condition with significant metabolic complications. Although lipid metabolism is linked to its pathogenesis, reliable biomarkers and the impact of modifiable factors remain underexplored. The ai…
View article: Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia Open
Introduction: Acute lymphoblastic leukemia (ALL) is the most prevalent childhood malignancy. Despite high cure rates, several questions remain regarding predisposition, response to treatment, and prognosis of the disease. The role of inter…
View article: METABOLIC FINGERPRINT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA
METABOLIC FINGERPRINT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA Open
Introduction: Acute lymphoblastic leukemia (ALL) represents the most prevalent childhood malignancy. Despite high cure rates, several questions regarding predisposition, response to treatment, and prognosis of the disease remain. The role …
View article: Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report Open
Summary Introduction Succinic semialdehyde dehydrogenase deficiency (SSADH), also known as 4-hydroxybutyric aciduria (OMIM #271980, 610045), is an ultra-rare neurometabolic disorder inherited in an autosomal recessive pattern. It is usuall…
View article: Additional file 3 of Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins
Additional file 3 of Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins Open
Additional file 3.
View article: Additional file 1 of Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins
Additional file 1 of Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins Open
Additional file 1.
View article: Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins
Impacts of dietary exposure to pesticides on faecal microbiome metabolism in adult twins Open
Concerns have been raised as to whether the consumption of foodstuffs contaminated with pesticides can contribute to the development of chronic human diseases by affecting microbial community function in the gut. We provide the first assoc…