Lipin 1 is an intracellular protein acting as a phosphatidic acid phosphohydrolase enzyme
controlling lipid metabolism. Human recessive mutations in LPIN1 cause recurrent, early …

The incidence and mortality rates of colorectal cancer (CRC) have been high in recent
years. Prevention and early detection are crucial for decreasing the death rate. Therefore …

In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in
sickle cell disease (SCD) patients. To support this observation and identify other metabolites …

Phosphatidate phosphatase‐1 (lipin‐1) is encoded by LPIN1 gene. Lipin‐1 deficiency has
been reported as the second most common cause of early‐onset rhabdomyolysis after …

Pathogenic variants in LPIN1 are a recognised cause of severe and often fatal
rhabdomyolysis in childhood. We present a rare case of adult onset recurrent …

Background LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an
autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have …

Sickle cell disease is a monogenic disorder caused by a point mutation in the beta-globin
gene. The complications related to the disease are characterized by a broad spectrum of …

Background: LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is
an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants …

Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has
been reported as the second most common cause of early-onset rhabdomyolysis after …

LPIN1 molecular alterations were identified as a major cause of severe recurrent
rhabdomyolysis. The prognosis is poor, with a third of patients dying from cardiac arrest …