title: A pediatric genetic disorder diagnosed in adulthood.
authors.affiliation: The Childrens Hospital, Keck School of Medicine, University of Southern California, Los Angeles, USA. jchurch@chla.usc.edu
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Church
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004041:Dietary Fats / Q000378:metabolism; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009503:Neutropenia / Q000175:diagnosis / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D011544:Pseudogenes / Q000235:genetics*; D012141:Respiratory Tract Infections / Q000175:diagnosis / Q000235:genetics; D013997:Time Factors
chemical_list: D004041:Dietary Fats; D011506:Proteins; C470521:SBDS protein, human