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Results 21 - 23 of 23 for Neonatal onset
  1. Glutaric acidemia type I 
    ... Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  2. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... 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/...nd-brainstem-involvement-and-high-lactate - Genetics
  3. Thiamine-responsive megaloblastic anemia syndrome 
    ... A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
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