Literature DB >> 24048164

New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).

Mariana Gómez-Nájera1, Hilario Barajas-Medina, Mayra C Gallegos-Rivas, Pedro Mendez-Sashida, Kendrick A Goss, Katherine B Sims, Radhika Tripuraneni, Yadira Valles-Ayoub.   

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Year:  2015        PMID: 24048164     DOI: 10.1097/MPG.0000000000000175

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


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  5 in total

1.  Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Authors:  Yuritzi Santillán-Hernández; Enory Almanza-Miranda; Winnie W Xin; Kendrick Goss; Aurea Vera-Loaiza; María T Gorráez-de la Mora; Raul E Piña-Aguilar
Journal:  World J Gastroenterol       Date:  2015-01-21       Impact factor: 5.742

2.  Management of Lysosomal Acid Lipase Deficiency for the Gastroenterologist and Hepatologist.

Authors:  Stephen A Harrison
Journal:  Gastroenterol Hepatol (N Y)       Date:  2016-05

3.  Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Authors:  Simon A Jones; Sandra Rojas-Caro; Anthony G Quinn; Mark Friedman; Sachin Marulkar; Fatih Ezgu; Osama Zaki; J Jay Gargus; Joanne Hughes; Dominique Plantaz; Roshni Vara; Stephen Eckert; Jean-Baptiste Arnoux; Anais Brassier; Kim-Hanh Le Quan Sang; Vassili Valayannopoulos
Journal:  Orphanet J Rare Dis       Date:  2017-02-08       Impact factor: 4.123

4.  The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.

Authors:  Michelle Saad; Sabeen Syed
Journal:  ACG Case Rep J       Date:  2021-01-13

Review 5.  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

  5 in total

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