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  1. First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

    © 2020 LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is

  2. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

    BACKGROUND: Recessive LPIN1 mutations were identified as a cause of severe rhabdomyolysis in pediatric patients. The human lipin family includes two other closely related members, lipin-2 and 3, which share strong homology and similar activity. The

  3. Influence of SNPs in nutrient-sensitive candidate genes and gene-diet interactions on...

    Blood lipid response to a given dietary intervention could be determined by the effect of diet, gene variants or gene-diet interactions. The objective of the present study was to investigate whether variants in presumed nutrient-sensitive genes

  4. Adipogenic gene variants in patients with HIV-associated lipodystrophy

    OBJECTIVES: Although highly active antiretroviral therapy (HAART) has been hugely beneficial in the treatment of HIV, HIV lipodystrophy (HIVLD) associated with HAART is a serious adverse effect, with long-term consequences including metabolic

  5. Analyses of single nucleotide polymorphisms in selected nutrient-sensitive genes in...

    BACKGROUND: Differences in the interindividual response to dietary intervention could be modified by genetic variation in nutrient-sensitive genes. OBJECTIVE: This study examined single nucleotide polymorphisms (SNPs) in presumed nutrient-sensitive

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