Literature DB >> 31977950

Two Novel PNLIP Mutations Causing Congenital Lipase Deficiency in Identical Twin Boys.

Lena Gottesman-Katz1, Wendy Chung2, Rebecca Hernan3, Amy R DeFelice1.   

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Year:  2020        PMID： 31977950     DOI： 10.1097/MPG.0000000000002641

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  2 in total

1.  Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.

Authors:  Naglaa M Kamal; Omar I Saadah; Shahad S Alheraiti; Ruwayd Attar; Asmaa D Alsufyani; Moratda H F El-Shabrawi; Laila M Sherief
Journal:  Ther Adv Chronic Dis       Date:  2022-03-04       Impact factor: 5.091

2.  Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.

Authors:  Balázs Csaba Németh; Alexandra Demcsák; Andrea Geisz; Miklós Sahin-Tóth
Journal:  Sci Rep       Date:  2022-04-15       Impact factor: 4.996
  2 in total

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