AmyMichelleKritzerMD

PubMed

• Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.
  Clara Hildebrandt, Celeste R Wilson, Amy Kritzer> ;Child Abuse & Neglect. 2022 Mar 1
• 3 citations
  Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention
  Amy Kritzer, Stacey Tarrant, Karen Sussman-Karten, Kimberly H. Barbas> ;JIMD Reports. 2020 Jul 30
• 17 citations
  First 1.5 years of pegvaliase clinic: Experiences and outcomes
  Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin D. Goodlett, Amy Kritzer, Harvey L. Levy, Leslie Martell, Ann Wessel, Krista Viau> ;Molecular Genetics and Metabolism Reports. 2020 May 25
• 8 citations
  Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.
  Fran Rohr, Amy Kritzer, Cary O. Harding, Krista Viau, Harvey L. Levy> ;Molecular Genetics and Metabolism Reports. 2020 Mar 1
• 3 citations
  A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
  Alissa M. D'Gama, William J. Brucker, Tian Zhang, Cynthia S. Gubbels, Sacha Ferdinandusse, Jiahai Shi, Patricia Ellen Grant, Grace E. VanNoy, Casie A. Genetti, Jane Ju...> ;American Journal of Medical Genetics. Part A. 2020 Apr 1
• 5 citations
  Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism.
  Amy Kritzer> ;Molecular Genetics and Metabolism. 2020 Jan 1
• 1 citations
  Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism.
  Nina B. Gold, Amy Kritzer, Debra L. Weiner, Kenneth A. Michelson> ;Pediatric Emergency Care. 2019 Nov 13
• 8 citations
  Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.
  Amy Kritzer, Aishwarya Siddharth, Kate Leestma, Olaf Bodamer> ;Molecular Genetics and Metabolism Reports. 2019 Oct 19
• 3 citations
  Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B 12 Metabolism: Case Reports and Literature Review
  Dolores Mullikin, Nishitha R. Pillai, Rossana Sanchez, Anne H. O'Donnell Luria, Amy Kritzer, Leyat Tal, Mohammed Almannai, Gerard T. Berry, Michael J. Gambello, Hong L...> ;The Journal of Pediatrics. 2018 Nov 1
• 7 citations
  Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
  Jaclyn B. Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, Amy Kritzer, Joel B. Krier, Matthew S. Lebo, Shawn Fayer, Casie A. Genetti, Grace E. VanNoy, Timothy W. Yu, Pank...> ;Cold Spring Harbor Molecular Case Studies. 2018 Aug 1
• Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
  Nina B. Gold, Jennifer Blumenthal, Ann Wessel, Deborah R. Stein, Adam Scott, Victor L. Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine R. Peeler, Wen-Hann Tan> ;The Journal of Pediatrics. 2018 Jul 1
• 15 citations
  Cerebellar cognitive affective syndrome: insights from Joubert syndrome.
  Chelsea L. Hickey, Janet C. Sherman, Paula Goldenberg, Amy Kritzer, Paul A. Caruso, Jeremy D. Schmahmann, Mary K. Colvin> ;Cerebellum & Ataxias. 2018 Mar 21
• Join now to see all