Research Overview

Dr. Kritzer has a deep commitment to improving the quality of care for patients with rare disease. Dr. Kritzer’s research centers around projects that integrate patient care, quality improvement, physician education and the psychosocial needs of patients and their families. Ongoing projects include improving communication among community physicians and academic medical centers, designing educational materials about rare disease, comprehensive assessment of the social and emotional needs of families, and building stronger communities between patients and providers. Additionally, she is the Principal Investigator for several Lysosomal Storage Disease registries. Dr. Kritzer is dedicated to helping people live well with rare and chronic diseases.

About Amy Kritzer

Dr. Kritzer earned her MD from the Albert Einstein College of Medicine and a BA in Biology from Barnard College, Columbia University in New York. She completed a residency in Pediatrics at the Floating Hospital for Children at Tufts Medical Center and fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. She joined the faculty at Boston Children’s Hospital in 2016. Dr. Kritzer currently serves as the co-director of the BoLD Lysosomal Storage disease clinic at Boston Children’s and as the physician lead for Quality Improvement for the Division of Genetics and Genomics. She has a deep commitment to caring for individuals with complex medical needs and their families and serves as a member of the medical advisory council for Make-a-Wish of Massachusetts and Rhode Island. Dr. Kritzer was awarded the Genzyme/American College of Medical Genetics Foundation Fellowship for Biochemical Genetics and is a scholar member of the Boston Children’s Hospital Academy for Teaching and Educational Innovation and Scholarship. She is a full-time clinician with special focus on patients with Lysosomal Storage Diseases, Smith Lemli Opitz syndrome and other inborn errors of metabolism.

Researcher Services

PUBLICATIONS

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  1. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4). View abstract
  2. Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 Jul 26. View abstract
  3. Gold NB, Blumenthal JA, Wessel AE, Stein DR, Scott A, Fox VL, Turner A, Kritzer A, Rajabi F, Peeler K, Tan WH. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 Jul; 198:313-316. View abstract
  4. Hickey CL, Sherman JC, Goldenberg P, Kritzer A, Caruso P, Schmahmann JD, Colvin MK. Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cerebellum Ataxias. 2018; 5:5. View abstract