FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report. [PDF]
Ye R +7 more
europepmc +1 more source
ABSTRACT Background Although numerous noninvasive indices have been proposed to assess significant fibrosis (SF), none have been validated specifically in young adults with metabolic dysfunction‐associated steatotic liver disease (MASLD). This study evaluated their performance in younger patients across two cohorts with distinct screening goals ...
Ahlim Lee +6 more
wiley +1 more source
Autophagy in MASLD: A Metabolic and Precision Medicine Perspective
ABSTRACT Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common chronic liver condition worldwide and a major contributor to cirrhosis and hepatocellular carcinoma (HCC). While metabolic triggers such as obesity and insulin resistance are key drivers of MASLD, growing evidence has identified defects in intracellular quality
Alessandra Cazzaniga +4 more
wiley +1 more source
Interesting neuroimaging findings in a child with hyperlipidemia: a case report. [PDF]
Torabi A +5 more
europepmc +1 more source
ABSTRACT Objective This study aimed to investigate the association between residential location—urban area and urban expansion area and sociodemographic characteristics, health behaviors, and clinical‐metabolic outcomes among schoolchildren aged 6 to 9 years in the municipality of Rio das Ostras, Brazil.
Luiz Felipe da Cruz Rangel +4 more
wiley +1 more source
Olezarsen in Hypertriglyceridemia With High Cardiac Risk: A GRADE-Assessed Meta-Analysis of Randomized Trials With Trial Sequential Evidence. [PDF]
Emara A +9 more
europepmc +1 more source
Correction to "Acute pancreatitis caused by severe hypertriglyceridemia in a 61-year-old man on a carnivore diet". [PDF]
europepmc +1 more source
Severe Familial Chylomicronemia Syndrome With Refractory Hypertriglyceridemia and Multisystem Complications Managed With Chronic Plasmapheresis and Olezarsen: A Case Report. [PDF]
Ahmad CM +4 more
europepmc +1 more source
Concomitant Hypertriglyceridemia-Induced Pancreatitis and Diabetic Ketoacidosis in the Setting of Olanzapine Use: A Case Report. [PDF]
Ingawale S +5 more
europepmc +1 more source

