Literature DB >> 8956047

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

J Fujiyama1, H Sakuraba, M Kuriyama, T Fujita, K Nagata, H Nakagawa, M Osame.   

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Year:  1996        PMID： 8956047     DOI： 10.1002/(SICI)1098-1004(1996)8:4<377::AID-HUMU15>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  Intragenic deletion as a novel type of mutation in Wolman disease.

Authors:  Teresa M Lee; Mariko Welsh; Sonia Benhamed; Wendy K Chung
Journal:  Mol Genet Metab       Date:  2011-09-14       Impact factor: 4.797

2.  A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.

Authors:  Kwang Yeon Kim; Ju Whi Kim; Kyung Jae Lee; Eunhyang Park; Gyeong Hoon Kang; Young Hun Choi; Woo Sun Kim; Jung Min Ko; Jin Soo Moon; Jae Sung Ko
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2017-12-22

Review 3.  Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Authors:  Francis Aguisanda; Natasha Thorne; Wei Zheng
Journal:  Curr Chem Genom Transl Med       Date:  2017-01-30

Review 4.  Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

Authors:  Camila da Rosa Witeck; Anne Calbusch Schmitz; Júlia Meller Dias de Oliveira; André Luís Porporatti; Graziela De Luca Canto; Maria Marlene de Souza Pires
Journal:  J Pediatr (Rio J)       Date:  2021-05-06       Impact factor: 2.990
  4 in total

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