Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
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DOI: 10.1111/cge.13058
Abstract: Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long‐chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various… read more here.
Keywords: clinical biochemical; larsson syndrome; genetic aspects; gren larsson ... See more keywords
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108177
Abstract: Purpose To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals… read more here.
Keywords: clinical biochemical; genetic characteristics; mogs cdg; analysis ... See more keywords
Biochemical and Genetic Approaches Improving Nitrogen Use Efficiency in Cereal Crops: A Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2021.657629
Abstract: Nitrogen is an essential nutrient required in large quantities for the proper growth and development of plants. Nitrogen is the most limiting macronutrient for crop production in most of the world’s agricultural areas. The dynamic… read more here.
Keywords: nitrogen; nitrogen use; use efficiency; improving nitrogen ... See more keywords
Clinical, Biochemical and Genetic Variables Associated With Metabolic Syndrome in Patients With Schizophrenia Spectrum Disorders Using Second-Generation Antipsychotics: A Systematic Review
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DOI: 10.3389/fpsyt.2021.625935
Abstract: Background: Individuals with severe mental illness experience increased morbidity and mortality compared to the general population. Adverse effects of antipsychotics, including weight gain, may contribute to the development of metabolic syndrome (MetS), which is associated… read more here.
Keywords: schizophrenia spectrum; spectrum disorders; clinical biochemical; associated mets ... See more keywords
Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe
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DOI: 10.3390/diagnostics11071169
Abstract: For many authorized drugs, accumulating scientific evidence supports testing for predictive biomarkers to apply personalized therapy and support preventive measures regarding adverse drug reactions and treatment failure. Here, we review cytogenetic and biochemical genetic testing… read more here.
Keywords: cytogenetic biochemical; genetic techniques; drug; techniques personalized ... See more keywords