Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.
Naglaa M KamalOmar I SaadahShahad S AlheraitiRuwayd AttarAsmaa D AlsufyaniMoratda H F El-ShabrawiLaila M SheriefPublished in: Therapeutic advances in chronic disease (2022)
PNLIP deficiency should be suspected in patients with steatorrhea who have low pancreatic lipase and an otherwise normal health and appropriate growth.