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Metabolism: clinical and experimental, ISSN 0026-0495, 03/2019
Early diagnosis, optimal therapeutic management and regular follow up of children with X-linked hypophosphatemia (XLH) determine their long term outcomes and... 
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 2, pp. AB46 - AB46
  Methods A convenience retrospective study analysed 10 female and 4 male patients with EoE being treated according to dietary therapy recommendations, during... 
Allergy and Immunology | Pediatrics | Medical research | Bone density | Vitamin D | Metabolism
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 127 - 131
Journal Article
Current Osteoporosis Reports, ISSN 1544-1873, 6/2016, Volume 14, Issue 3, pp. 95 - 105
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2016, Volume 31, Issue 3, pp. 498 - 513
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2018, Volume 378, Issue 21, pp. 1987 - 1998
Journal Article
Revue du Rhumatisme monographies, ISSN 1878-6227, 02/2019, Volume 86, Issue 1, p. 55
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 220 - 234
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological... 
type I interferon | Medical Microbiology | Biomedicine | Immunology | tartrate-resistant acid phosphatase (TRAP) | Infectious Diseases | Internal Medicine | ACP5 | interferon signature | SPENCD/SPENCDI | Spondyloenchondrodysplasia | RNASEH2A | CEREBRAL CALCIFICATIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ENCHONDROMATOSIS | SPONDYLOMETAPHYSEAL DYSPLASIA | AUTOIMMUNITY | EXPRESSION SIGNATURE | IMMUNODEFICIENCY | Bone and Bones - pathology | Osteochondrodysplasias - pathology | Purpura, Thrombocytopenic, Idiopathic - genetics | Intellectual Disability - immunology | Humans | Child, Preschool | Male | Autoantibodies - biosynthesis | Interferon Type I - immunology | Intellectual Disability - genetics | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Purpura, Thrombocytopenic, Idiopathic - immunology | Purpura, Thrombocytopenic, Idiopathic - pathology | Lupus Erythematosus, Systemic - immunology | Adult | Female | Tartrate-Resistant Acid Phosphatase - immunology | Autoimmune Diseases - pathology | Child | Gene Expression | Osteochondrodysplasias - immunology | Autoimmune Diseases - immunology | Intellectual Disability - pathology | Genotype | Phenotype | Pedigree | Lupus Erythematosus, Systemic - genetics | Adolescent | Alleles | Brain - pathology | Interferon Type I - genetics | Bone and Bones - immunology | Mutation | Tartrate-Resistant Acid Phosphatase - deficiency | Tartrate-Resistant Acid Phosphatase - genetics | Brain - immunology | Lupus Erythematosus, Systemic - pathology | Autoimmunity | SPENCDI | Original | SPENCD
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