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Journal Article
Journal Article
Journal Article
Pediatrics International, ISSN 1328-8067, 08/2017, Volume 59, Issue 8, pp. 935 - 936
Journal Article
Cell Death and Disease, ISSN 2041-4889, 08/2018, Volume 9, Issue 8, pp. 808 - 14
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a devastating progressive disease caused by mutations in the iduronate 2-sulfatase... 
IDURONATE-2-SULFATASE GENE | HUNTER-SYNDROME | DISEASE | ENDOPLASMIC-RETICULUM | PATIENT | MUTATIONS | IDENTIFICATION | ENZYME REPLACEMENT THERAPY | CFTR | TRANSPLANTATION | CELL BIOLOGY | Ubiquitin | Glycosaminoglycans | Enzymatic activity | Protein folding | Lysosomes | Mucopolysaccharidosis | Endoplasmic reticulum | Ubiquitin-protein ligase | Golgi apparatus
Journal Article
Development, Growth & Differentiation, ISSN 0012-1592, 05/2007, Volume 49, Issue 4, pp. 345 - 349
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2017, Volume 37, Issue 6, pp. 529 - 538
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA)... 
Medical Microbiology | Biomedicine | Immunology | Anhidrotic ectodermal dysplasia with immunodeficiency | Infectious Diseases | Internal Medicine | incontinentia pigmenti | lipopolysaccharide | NEMO | GENE | ANHIDROTIC ECTODERMAL DYSPLASIA | SIBLINGS | X-CHROMOSOME INACTIVATION | INFECTION | IMMUNOLOGY | KINASE 4 DEFICIENCY | Tumor Necrosis Factor-alpha - metabolism | Humans | Immunity, Innate - genetics | Child, Preschool | Infant | NF-kappa B - metabolism | Lipopolysaccharides - immunology | Lipopolysaccharide Receptors - metabolism | Incontinentia Pigmenti - genetics | DNA Mutational Analysis | Female | Immunologic Deficiency Syndromes - diagnosis | Child | Macrophages - immunology | Skin - pathology | Cells, Cultured | Ectodermal Dysplasia - diagnosis | Genotype | I-kappa B Kinase - genetics | Mutation - genetics | Incontinentia Pigmenti - diagnosis | Pedigree | Adolescent | Alleles | Immunologic Deficiency Syndromes - genetics | Heterozygote | Ectodermal Dysplasia - genetics | Women | Medical research | Dysplasia | Analysis | Immunodeficiency | Medicine, Experimental | Genetic research | Genetic aspects | Disease susceptibility | Diagnosis | Mitogens | Health aspects | Anhidrotic ectodermal dysplasia | NF-κB protein | Leukocytes (mononuclear) | CD14 antigen | Lipopolysaccharides | Reporter gene | Infectious diseases | Somatic cells | Tumor necrosis factor | Genetic analysis | Peripheral blood mononuclear cells | Incontinentia Pigmenti | Tumor necrosis factor-TNF | Umbilical cord | Mutation | Females | Leukocytes (granulocytic)
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2019, Volume 19, p. 100455
Journal Article