Literature DB >> 10070628

Fatal genetic defect causing Wolman disease.

E Mayatepek1, U Seedorf, H Wiebusch, H Lenhartz, G Assmann.   

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Year:  1999        PMID： 10070628     DOI： 10.1023/a:1005428122457

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

Authors:  M Tuchman; R J Plante; M A Garcia-Perez; V Rubio
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

2.  Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

Authors:  C L Maslen; D Babcock; D R Illingworth
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

Authors:  C Aslanidis; S Ries; P Fehringer; C Büchler; H Klima; G Schmitz
Journal:  Genomics       Date:  1996-04-01       Impact factor: 5.736
  3 in total
  6 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

Review 2.  Breaking fat: The regulation and mechanisms of lipophagy.

Authors:  Ryan J Schulze; Aishwarya Sathyanarayan; Douglas G Mashek
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2017-06-20       Impact factor: 4.698

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

Review 4.  Lipid droplets: platforms with multiple functions in cancer hallmarks.

Authors:  André L S Cruz; Ester de A Barreto; Narayana P B Fazolini; João P B Viola; Patricia T Bozza
Journal:  Cell Death Dis       Date:  2020-02-06       Impact factor: 8.469

5.  Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Authors:  Simon A Jones; Vassili Valayannopoulos; Eugene Schneider; Stephen Eckert; Maryam Banikazemi; Martin Bialer; Stephen Cederbaum; Alicia Chan; Anil Dhawan; Maja Di Rocco; Jennifer Domm; Gregory M Enns; David Finegold; J Jay Gargus; Ornella Guardamagna; Christian Hendriksz; Iman G Mahmoud; Julian Raiman; Laila A Selim; Chester B Whitley; Osama Zaki; Anthony G Quinn
Journal:  Genet Med       Date:  2015-08-27       Impact factor: 8.822

Review 6.  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
  6 in total

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