title: New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
authors.affiliation: *Hospital de Ginecopediatria #48 IMSS, León, Guanajuato, México †Unidad Médica de Alta Especialidad 1, IMSS, Leon, Guanajuato, México ‡Center for Human Genetics, Massachusetts General Hospital §Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston ||Synageva BioPharma Corp, Lexington, MA ¶HIBM Research Group, Los Angeles, CA.
authors.forename: Mariana
authors.initials: M
authors.lastname: Gómez-Nájera
authors.forename: Hilario
authors.initials: H
authors.lastname: Barajas-Medina
authors.forename: Mayra C
authors.initials: MC
authors.lastname: Gallegos-Rivas
authors.forename: Pedro
authors.initials: P
authors.lastname: Mendez-Sashida
authors.forename: Kendrick A
authors.initials: KA
authors.lastname: Goss
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Sims
authors.forename: Radhika
authors.initials: R
authors.lastname: Tripuraneni
authors.forename: Yadira
authors.initials: Y
authors.lastname: Valles-Ayoub
mesh_terms: D000307:Adrenal Gland Diseases / Q000209:etiology; D019943:Amino Acid Substitution; D002114:Calcinosis / Q000209:etiology; D002559:Cerebrospinal Fluid Rhinorrhea / Q000209:etiology; D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005334:Fever / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008800:Mexico; D009154:Mutation; D013163:Splenomegaly / Q000209:etiology; D002787:Sterol Esterase / Q000235:genetics; D015223:Wolman Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy
chemical_list: C503451:LIPA protein, human; D002787:Sterol Esterase