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  • Myotonic muscular dystrophy type 1
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  • Neurofibromatosis Type 1
  • New Onset Seizure Algorithms
  • Osteogenesis Imperfecta
  • Phenylketonuria (PKU) and Pterin defects
  • Polycystic Kidney Disease (Autosomal Recessive)
  • Prader-Willi Syndrome
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  • VLCADD
  • Modules in Revision/Development
• Newborn Disorders
  • Overview
  • 2M3HBA deficiency
  • 3MCC deficiency
  • Argininemia
  • Argininosuccinic aciduria
  • Beta-Ketothiolase deficiency
  • Biotinidase deficiency
  • CACT deficiency
  • CPT1 deficiency
  • Carnitine uptake deficiency
  • Citrullinemia
  • Congenital adrenal hyperplasia
  • Congenital hypothyroidism
  • Cystic fibrosis
  • Galactosemia
  • Glutaric acidemia type 1
  • Glutaric acidemia type 2
  • HMG-CoA lyase deficiency
  • Hearing impairment
  • Holocarboxylase/multiple carboxylase deficiency
  • Homocystinuria
  • Isobutyryl Co-A dehydrogenase deficiency
  • Isovaleric acidemia
  • LCHADD/TFP deficiency
  • MCADD
  • Malonic aciduria
  • Maple syrup urine disease
  • Methylmalonic acidemias
  • PKU
  • Propionic acidemia
  • Short-chain acyl-CoA deficiency (SCADD)
  • Short/branched chain acyl-CoA dehydrogenase deficiency
  • Sickle cell disease
  • Tyrosinemia type 1
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Paula Peterson, APRN, PNP