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Results 1 - 10 of 23 for Inborn errors of metabolism
  1. Inborn errors of metabolism 
    Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The ... and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if ...
    https://medlineplus.gov/ency/article/002438.htm - Medical Encyclopedia
  2. Serum phenylalanine screening 
    Konczal LL, Zinn AB. Inborn errors of metabolism. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 11th ed. Philadelphia, PA: Elsevier; 2020: ...
    https://medlineplus.gov/ency/article/003362.htm - Medical Encyclopedia
  3. Plasma amino acids 
    ... in the blood may be due to: Eclampsia Inborn error of metabolism Fructose intolerance Ketoacidosis (from diabetes) Kidney failure Reye ...
    https://medlineplus.gov/ency/article/003361.htm - Medical Encyclopedia
  4. Hereditary urea cycle abnormality 
    ... Elsevier; 2020:chap 103. Konczal LL, Zinn AB. Inborn errors of metabolism. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. ... errors of urea synthesis. In: Swaiman KF, Ashwal S, Ferriero ...
    https://medlineplus.gov/ency/article/000372.htm - Medical Encyclopedia
  5. Niemann-Pick disease 
    ... 2020:chap 104. Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's ...
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  6. Galactosemia 
    ... chap 105. Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta ...
    https://medlineplus.gov/ency/article/000366.htm - Medical Encyclopedia
  7. Hartnup disorder 
    ... chap 103. Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta ...
    https://medlineplus.gov/ency/article/001201.htm - Medical Encyclopedia
  8. Gaucher disease 
    ... 2020:chap 197. Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's ...
    https://medlineplus.gov/ency/article/000564.htm - Medical Encyclopedia
  9. Menkes disease 
    ... 2020:chap 617. Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's ...
    https://medlineplus.gov/ency/article/001160.htm - Medical Encyclopedia
  10. Mucopolysaccharidosis type I 
    ... 2020:chap 107. Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's ...
    https://medlineplus.gov/ency/article/001204.htm - Medical Encyclopedia
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