Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With Variants in HNF1A .

AACE Clinical Case Reports(2022)

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摘要
Although confounding factors make the assessment of neonatal hypoglycemia challenging, these cases offer potential support for single genetic variants in causing both MODY and neonatal hypoglycemia, with associated fetal overgrowth in utero.
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CGM, continuous glucose monitoring,CHI, congenital hyperinsulinism,EFW, estimated fetal weight,HNF1A,HNF1A, hepatic nuclear factor-1α,HNF4A, hepatocyte nuclear factor-4α,HbA1C, hemoglobin A1C,MODY,MODY, maturity-onset diabetes of the young,NICU, neonatal intensive care unit,T1D, type 1 diabetes,T2D, type 2 diabetes,VUS, variant of uncertain significance,congenital hyperinsulinism,diabetes,genetic variants,macrosomia
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