Early neurodevelopmental characterization in children with cobalamin C/defect
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12171
Abstract: Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to… read more here.
Keywords: neurodevelopmental characterization; early neurodevelopmental; age; characterization children ... See more keywords
Clinical characterization of children and adolescents with NF1 microdeletions
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04717-0
Abstract: An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and… read more here.
Keywords: clinical characterization; nf1 microdeletions; characterization children; children adolescents ... See more keywords
Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India
Sign Up to like & getrecommendations! Published in 2017 at "Indian Pediatrics"
DOI: 10.1007/s13312-017-1049-7
Abstract: ObjectiveTo study the genetic mutations and clinical profile in children with neonatal diabetes mellitusMethodsGenetic evaluation, clinical management and follow-up of infants with neonatal diabetesResultsEleven infants were studied of which eight had permanent neonatal diabetes. Median… read more here.
Keywords: clinical molecular; molecular characterization; characterization children; diabetes mellitus ... See more keywords
Molecular Allergy Diagnostics Refine Characterization of Children Sensitized to Dog Dander
Sign Up to like & getrecommendations! Published in 2019 at "Pediatrics"
DOI: 10.1542/peds.2019-2461bb
Abstract: U Kack, A Asarnoj, H Gronlund. J Allergy Clin Immunol. 2018;142(4):1113–1120.e9 To analyze patterns of immunoglobulin E (IgE) reactivity to dog allergen components in sensitized children and investigate the association between those patterns and clinical… read more here.
Keywords: allergy diagnostics; diagnostics refine; characterization children; refine characterization ... See more keywords