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4 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. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

Authors: Vassili Valayannopoulos; Vera Malinova; Tomas Honzík; Manisha Balwani; Catherine Breen; Patrick B Deegan; Gregory M Enns; Simon A Jones; John P Kane; Eveline O Stock; Radhika Tripuraneni; Stephen Eckert; Eugene Schneider; Gavin Hamilton; Michael S Middleton; Claude Sirlin; Bruce Kessler; Christopher Bourdon; Simeon A Boyadjiev; Reena Sharma; Chris Twelves; Chester B Whitley; Anthony G Quinn
Journal: J Hepatol Date: 2014-06-30 Impact factor: 25.083

3. Impact of the loss of caveolin-1 on lung mass and cholesterol metabolism in mice with and without the lysosomal cholesterol transporter, Niemann-Pick type C1.

Authors: Dorothy I Mundy; Adam M Lopez; Kenneth S Posey; Jen-Chieh Chuang; Charina M Ramirez; Philipp E Scherer; Stephen D Turley
Journal: Biochim Biophys Acta Date: 2014-04-18

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