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Molecular Systems Biology, ISSN 1744-4292, 07/2013, Volume 9, Issue 1, pp. 662 - n/a
Journal Article
Nature, ISSN 0028-0836, 06/2018, Volume 558, Issue 7708, pp. 73 - 79
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2012, Volume 7, Issue 1, pp. 35 - 35
textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is... 
Pompe disease | Genotype phenotype correlations | Lysosomal storage diseases | Glycogen storage disease type II | Enzyme replacement therapy | GAA | MEDICINE, RESEARCH & EXPERIMENTAL | MALTASE DEFICIENCY | NATURAL-HISTORY | SKELETAL-MUSCLE | ALGLUCOSIDASE ALPHA | GLYCOGEN-STORAGE-DISEASE | MUTATION | FREQUENCY | INFANTS | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | ONSET | Enzyme Replacement Therapy | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Cross-Sectional Studies | Genetic Association Studies | Glycogen Storage Disease Type II - genetics | Humans | Middle Aged | Male | Cardiomyopathy, Hypertrophic - enzymology | Glycogen Storage Disease Type II - therapy | Glycogen Storage Disease Type II - physiopathology | Glycogen Storage Disease Type II - enzymology | Young Adult | alpha-Glucosidases - genetics | Cardiomyopathy, Hypertrophic - physiopathology | Muscle, Skeletal - physiopathology | Adolescent | Adult | Female | Mutation | Cardiomyopathy, Hypertrophic - therapy | Germany | Infant, Newborn | Glycogenosis | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Medical research | Amylases | Locomotives | Glycogen | Analysis | Genes | Medicine, Experimental | Muscles | Amino acids | Development and progression | Biotechnology industry | Genotype & phenotype | Manuscripts | Index Medicus
Journal Article
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1060 - 1073
ObjectivePatients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with... 
IBD-GENETICS | IBD CLINICAL | IMMUNODEFICIENCY | IBD BASIC RESEARCH | Crohn'S DISEASE | MIGLUSTAT THERAPY | PATHOGENESIS | APOPTOSIS | DENDRITIC CELLS | MACROPHAGES | SUSCEPTIBILITY | ILEAL MUCOSA | PHAGOSOME PROTEOME | GASTROENTEROLOGY & HEPATOLOGY | BOWEL-DISEASE | INNATE IMMUNITY | Tumor Necrosis Factor-alpha - metabolism | Crohn Disease - genetics | X-Linked Inhibitor of Apoptosis Protein - deficiency | Humans | Child, Preschool | Lysosomes | Male | Nod2 Signaling Adaptor Protein - genetics | Leukocytes, Mononuclear | Pyridazines - pharmacology | Niemann-Pick Disease, Type C - physiopathology | Autophagy - drug effects | Crohn Disease - complications | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Young Adult | Gentamicins - pharmacology | Adult | Bacteria | Female | Genetic Diseases, X-Linked - genetics | Autophagy - genetics | Child | Receptor-Interacting Protein Serine-Threonine Kinase 2 - antagonists & inhibitors | Macrophages - physiology | Granuloma - genetics | Cells, Cultured | Chlorpromazine - pharmacology | Imidazoles - pharmacology | Acetylmuramyl-Alanyl-Isoglutamine - metabolism | X-Linked Inhibitor of Apoptosis Protein - genetics | Acetylmuramyl-Alanyl-Isoglutamine - pharmacology | Granuloma - pathology | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Dopamine Antagonists - pharmacology | Adolescent | X-Linked Inhibitor of Apoptosis Protein - metabolism | Macrophages - drug effects | Anti-Bacterial Agents - pharmacology | Protein Kinase Inhibitors - pharmacology | Mutation | Niemann-Pick Disease, Type C - complications | Niemann-Pick Disease, Type C - genetics | Autophagy (Cytology) | Inflammatory bowel diseases | Gastrointestinal diseases | Causes of | Colorectal diseases | Crohn's disease | Research | Niemann-Pick disease | Salmonella | Granuloma | Muramyl dipeptide | Liver | XIAP protein | Kinases | Macrophages | Autophagy | Defects | Genotype & phenotype | Cell activation | Intestine | Neurodegeneration | Npc1 protein | Age | NOD2 protein | Oligomerization | Dendritic cells | Cytokines | Blood & organ donations | Inflammation | Patients | Crohns disease | Studies | Inflammatory bowel disease | Monocytes | Proteomics | Colitis | Adapter proteins | Phagocytosis | Apoptosis | Index Medicus | Abridged Index Medicus | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
Journal Article
Clinical Lipidology, ISSN 1758-4299, 06/2013, Volume 8, Issue 3, pp. 295 - 298
This year's Deuel Conference on Lipids focused on the seminal contribution of human genetics to lipid biology and disease. Named in honor of Harry J Deuel Jr,... 
PATHWAYS | BIOCHEMISTRY & MOLECULAR BIOLOGY | Conferences
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 17 - 19
Journal Article
Journal Article
Hepatology (Baltimore, Md.), ISSN 0270-9139, 2013, Volume 58, Issue 3, pp. 1074 - 1083
Journal Article
Methods in molecular biology (Clifton, N.J.), 2017, Volume 1601, pp. 215 - 228
Journal Article