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Genetics, Genomics and Metabolism Publications

Below are recent PubMed publications by faculty members in the Division of Genetics, Genomics and Metabolism in the Department of Pediatrics at Northwestern University Feinberg School of Medicine.

  1. Kim KH, Desai AK, Vucko ER, Boggs T, Kishnani PS, Burton BK  Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy.  Mol Genet Metab Rep  2023 Sep;36:100981. pii:100981
  2. Burton BK, Shively V, Quadri A, Warn L, Burton J, Grange DK, Christensen K, Groepper D, Ashbaugh L, Ehrhardt J  et al.  Newborn screening for mucopolysaccharidosis type II: Lessons learned.  Mol Genet Metab  2023;140(1-2):107557. doi:10.1016/j.ymgme.2023.107557
  3. Burton BK  Response to Drs. Strong and Ficicioglu.  J Pediatr Gastroenterol Nutr  2023 Jun 01;76(6):e89. doi:10.1097/MPG.0000000000003703
  4. Wolf B  Letter to the Editor with regards to the article: Biotinidase deficiency in a Newborn.  J Neonatal Perinatal Med  2023;16(2):191-192. doi:10.3233/NPM-190372
  5. Vucko ER, Havens KE, Baker JJ, Burton BK  Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses.  Mol Genet Metab Rep  2022 Sep;32:100905. pii:100905
  6. Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N  et al.  Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.  Mol Genet Metab  2022;137(1-2):114-126. doi:10.1016/j.ymgme.2022.07.012
  7. Burton BK, Hickey R, Hitchins L, Shively V, Ehrhardt J, Ashbaugh L, Peng Y, Basheeruddin K  Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.  Int J Neonatal Screen  2022 Jan 17;8(1). pii:6

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