article_metadata: Joseph A Church
article_metadata: 10.1371/journal.pmed.0030015
article_metadata: PLoS Med
article_metadata: 2006 Jan;3(1):e15.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/16435889/
article_metadata: Genetic Diseases, Inborn / diagnosis Proteins / genetics Pseudogenes / genetics
article_metadata: Genetic Diseases, Inborn / diagnosis Proteins / genetics Pseudogenes / genetics Case Reports Adult Diagnosis, Differential Dietary Fats / metabolism Female Genetic Diseases, Inborn / genetics Heterozygote Humans Malabsorption Syndromes / diagnosis Malabsorption Syndromes / genetics Malabsorption Syndromes / metabolism Mutation Neutropenia / diagnosis Neutropenia / genetics Respiratory Tract Infections / diagnosis Respiratory Tract Infections / genetics Time Factors Dietary Fats Proteins SBDS protein, human
article_metadata: PMC1360621
article_metadata: 16435889
article_metadata: A pediatric genetic disorder diagnosed in adulthood
article_metadata: 2006