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Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 4, pp. 332 - 337
Journal Article
Gastroenterology, ISSN 0016-5085, 05/2019, Volume 156, Issue 6, pp. S-390 - S-391
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 24 - 24
Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that... 
TRIGLYCERIDE TRANSFER PROTEIN | VITAMIN-E-DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | ANDERSON DISEASE | SAR1B GENE | X-RAY ABSORPTIOMETRY | APOPROTEIN-B | APOLIPOPROTEIN-B GENE | ENDOPLASMIC-RETICULUM | TRANSPORT VESICLE | ABETALIPOPROTEINEMIA | Malabsorption Syndromes - diagnosis | Lipid Metabolism Disorders - therapy | Anthropometry | Humans | Child, Preschool | Infant | Male | Lipid Metabolism Disorders - diagnosis | Malnutrition - complications | Lipid Metabolism Disorders - complications | Vitamin E Deficiency - complications | Adult | Female | Malabsorption Syndromes - therapy | Child | Diarrhea - complications | Fatty Acids - metabolism | Malabsorption Syndromes - complications | Monomeric GTP-Binding Proteins - genetics | Nervous System Diseases - complications | Malabsorption Syndromes - genetics | Chylomicrons - metabolism | Monomeric GTP-Binding Proteins - metabolism | Lipid Metabolism Disorders - genetics | Mutation | Cohort Studies | Growth Disorders - complications | Care and treatment | Usage | Genetic disorders | Gene mutations | Practice guidelines (Medicine) | Diagnosis | Health aspects | Risk factors | Proteins | Medical research | Nutrition | Cholesterol | Lipid Metabolism Disorders | Fatty Acids | Malabsorption Syndromes | Diarrhea | Chylomicrons | Monomeric GTP-Binding Proteins | Life Sciences | Vitamin E Deficiency | Genetics | Growth Disorders | Malnutrition | Nervous System Diseases
Journal Article
Gastroenterology, ISSN 0016-5085, 04/2017, Volume 152, Issue 5, pp. S394 - S394
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 04/2018
Journal Article
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 06/2018, Volume 66, Issue 6, pp. e159 - e161
Journal Article
Gastroenterology, ISSN 0016-5085, 04/2017, Volume 152, Issue 5, pp. S391 - S391
Journal Article
Nature, ISSN 0028-0836, 2012, Volume 491, Issue 7422, pp. 119 - 124
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with... 
HYPER-IGE SYNDROME | RISK LOCI | NETWORK | NUMBER | METAANALYSIS | TUBERCULOSIS | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | MUTATIONS | EXPRESSION | Crohn Disease - genetics | Humans | Inflammatory Bowel Diseases - immunology | Colitis, Ulcerative - genetics | Mycobacterium tuberculosis - immunology | Inflammatory Bowel Diseases - physiopathology | Colitis, Ulcerative - immunology | Host-Pathogen Interactions - immunology | Mycobacterium tuberculosis - pathogenicity | Haplotypes - genetics | Mycobacterium - pathogenicity | Mycobacterium Infections - genetics | Inflammatory Bowel Diseases - genetics | Crohn Disease - microbiology | Mycobacterium Infections - microbiology | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Reproducibility of Results | Mycobacterium - immunology | Crohn Disease - immunology | Genome, Human - genetics | Phenotype | Colitis, Ulcerative - microbiology | Host-Pathogen Interactions - genetics | Polymorphism, Single Nucleotide - genetics | Inflammatory Bowel Diseases - microbiology | Crohn Disease - physiopathology | Colitis, Ulcerative - physiopathology | Inflammatory bowel disease | Candidates | Tuberculosis | Architecture | Genetics | Genomes | Diabetes | Gene expression | Health risk assessment | Immune system | Rheumatology and Autoimmunity | Basic Medicine | Medical Genetics | Medicinsk genetik | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Reumatologi och inflammation | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin
Journal Article