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Northwestern University Feinberg School of Medicine
Department of Pediatrics
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Genetics, Birth Defects and Metabolism Publications

Below are listed selected publications by faculty members in the Division of Genetics, Birth Defects and Metabolism in the Department of Pediatrics at Northwestern University Feinberg School of Medicine.

Recent PubMed Publications

  1. Wolf B  Response to comment on "High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders".  Mol Genet Metab Rep  2019 Dec;21:100511. doi:10.1016/j.ymgmr.2019.100511
  2. Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K  Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.  J Pediatr  2019 Aug 30;. pii:S0022-3476(19)30961-8
  3. Wolf B  High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders.  Mol Genet Metab  2019 Aug;127(4):321-324. pii:S1096-7192(19)30405-6
  4. Wolf B  Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.  Mult Scler Relat Disord  2019 Feb;28:26-30. pii:S2211-0348(18)30523-6
  5. Sanders VR, Sheldon SH, Charrow J  Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?  Genet Med  2019 02;21(2):459-463. doi:10.1038/s41436-018-0070-0
  6. Charrow J, Fraga C, Gu X, Ida H, Longo N, Lukina E, Nonino A, Gaemers SJM, Jouvin MH, Li J, Wu Y, Xue Y, Peterschmitt MJ  Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.  Mol Genet Metab  2018 03;123(3):347-356. pii:S1096-7192(17)30569-3
  7. Burton BK, Kronn DF, Hwu WL, Kishnani PS,   The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.  Pediatrics  2017 Jul;140(Suppl 1):S14-S23. doi:10.1542/peds.2016-0280D
  8. Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G  Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.  J Pediatr  2017 11;190:130-135. pii:S0022-3476(17)30898-3
  9. Burton BK, Silliman N, Marulkar S  Progression of liver disease in children and adults with lysosomal acid lipase deficiency.  Curr Med Res Opin  2017 07;33(7):1211-1214. doi:10.1080/03007995.2017.1309371
  10. Lai JS, Jensen SE, Patel ZS, Listernick R, Charrow J  Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan.  Am J Med Genet A  2017 Jan;173(1):79-87. doi:10.1002/ajmg.a.37987
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