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Results 11 - 16 of 16 for Neonatal onset
  1. NAGS gene 
    ... the N-acetylglutamate synthase gene associated with acute neonatal disease and ... onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. ...
    https://medlineplus.gov/genetics/gene/nags - Genetics
  2. INS gene 
    ... of life.INS gene mutations that cause permanent neonatal diabetes mellitus change ... information about Maturity-onset diabetes of the young More About This Health ...
    https://medlineplus.gov/genetics/gene/ins - Genetics
  3. KCNQ2 gene 
    ... been identified in most people with benign familial neonatal seizures (BFNS), a condition characterized by recurrent seizures ( ... TJ, Steinlein OK. A potassium channel mutation in neonatal human epilepsy. Science. 1998 Jan 16;279(5349): ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  4. HADHB gene 
    ... Wanders RJ, Marquardt I, Korenke GC, Das AM. Neonatal screening for defects of the mitochondrial trifunctional protein. ... oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  5. EARS2 gene 
    ... Prokisch H, Distelmaier F. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus ... S, Karaer K, Yilmaz C, Pearl PL. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  6. POLR3A gene 
    ... Saunders C, Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in ... Schiffmann R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
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