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

AuthorsMariana Gómez-Nájera, Hilario Barajas-Medina, Mayra C Gallegos-Rivas, Pedro Mendez-Sashida, Kendrick A Goss, Katherine B Sims, Radhika Tripuraneni, Yadira Valles-Ayoub
JournalJournal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr) Vol. 60 Issue 3 Pg. e22-4 (Mar 2015) ISSN: 1536-4801 [Electronic] United States
PMID24048164 (Publication Type: Case Reports, Journal Article)
Chemical References
  • LIPA protein, human
  • Sterol Esterase
Topics
  • Adrenal Gland Diseases (etiology)
  • Amino Acid Substitution
  • Calcinosis (etiology)
  • Cerebrospinal Fluid Rhinorrhea (etiology)
  • Combined Modality Therapy
  • Diagnosis, Differential
  • Disease Progression
  • Family Health
  • Fatal Outcome
  • Female
  • Fever (etiology)
  • Hepatomegaly (etiology)
  • Humans
  • Infant
  • Mexico
  • Mutation
  • Splenomegaly (etiology)
  • Sterol Esterase (genetics)
  • Wolman Disease (diagnosis, genetics, physiopathology, therapy)

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