Australian Paediatric Surveillance Unit (APSU) Annual Surveillance Report 2019Article Published on 2020-08-172023-06-02 Journal: Communicable diseases intelligence (2018) [Category] 두창, 수두, [키워드] Australia Child communicable diseases public health surveillance rare diseases [DOI] 10.33321/cdi.2020.44.60
Australian Paediatric Surveillance Unit (APSU) Annual Surveillance Report 2019Article Published on 2020-08-172023-06-02 Journal: Communicable diseases intelligence (2018) [Category] 두창, [키워드] Australia Child communicable diseases public health surveillance rare diseases [DOI] 10.33321/cdi.2020.44.60
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes인간 희귀 뼈 질환의 세 가지 개 모델의 분자 특성: 카페, 반 덴 엔데 굽타 및 레인 증후군Research Article Published on 2016-05-172022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] affected approaches associations bone candidate gene canine Cell characterization characterized children clinical feature Clinical features complementary condition conditions cortical craniomandibular osteopathy developmental developmental disorder developmental disorders disease disorders enhancer experiments expressed facilitated FAM20C feature Genes genetic cause genome-wide association Glucose homeostasis Hospital admission Hospital admissions Human hyperostosis identity include infantile cortical hyperostosis Lineage Macrophage mechanism missense variant Model molecular molecular mechanism molecular mechanisms Mortality Mutation next generation sequencing Pathogenesis pathogenic variant pathology pediatric performed phosphate provide rare disease rare diseases Research SCARF2 Sequencing skeletal SLC37A2 syndrome therapeutic therapeutic trials Therapeutics therapy tissues Treatment trials variant [DOI] 10.1371/journal.pgen.1006037 PMC 바로가기 [Article Type] Research Article
Natural history of mevalonate kinase deficiency: a literature reviewReview Published on 2016-05-042024-09-02 Journal: Pediatric Rheumatology Online Journal [Category] 대상포진, [키워드] Hereditary autoinflammatory diseases Hyperimmunoglobulinemia D Mevalonate kinase deficiency Mevalonic aciduria rare diseases [DOI] 10.1186/s12969-016-0091-7 PMC 바로가기 [Article Type] Review