Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3135
Abstract: CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid‐chromatography tandem mass spectrometry (LC‐MS/MS)‐based blood test enabling measurement of the 25‐OH‐D3:24,25‐(OH)2D3 ratio (R) can identify IIH patients on the… read more here.
Keywords: serum 2d3; infantile hypercalcemia; iih; idiopathic infantile ... See more keywords
Retinal microstructures are altered in patients with idiopathic infantile nystagmus
Sign Up to like & getrecommendations! Published in 2017 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-017-3713-y
Abstract: PurposeTo compare segmented retinal layer thicknesses between patients with idiopathic infantile nystagmus (IIN) and controls.MethodsThis retrospective case-control study included 66 patients with IIN and 66 age-matched controls. The retinal layers were examined using spectral domain… read more here.
Keywords: infantile nystagmus; layer; idiopathic infantile; iin ... See more keywords
GP56 Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.122
Abstract: Introduction The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered… read more here.
Keywords: hypercalcemia; infantile hypercalcemia; idiopathic infantile; vitamin ... See more keywords
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.977806
Abstract: Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses… read more here.
Keywords: idiopathic infantile; infantile nystagmus; study pediatric; prospective study ... See more keywords
A new gene mutation in a family with idiopathic infantile nystagmus
Sign Up to like & getrecommendations! Published in 2021 at "Saudi Journal of Ophthalmology"
DOI: 10.4103/1319-4534.325787
Abstract: Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and… read more here.
Keywords: infantile nystagmus; family; idiopathic infantile; gene ... See more keywords