Harvard Catalyst Profiles

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Amy Kritzer, M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Rohr F, Wessel A, Harding CO, Waisbren SE, Viau K, Kritzer A. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. PMID: 36420422; PMCID: PMC9676276.
  2. Wojcik MH, Bresnahan M, Del Rosario MC, Ojeda MM, Kritzer A, Fraiman YS. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2022 Aug 13. PMID: 35963884.
    Citations:    Fields:    
  3. Wang JM, Ho DV, Kritzer A, Chan JY. A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. Hum Mutat. 2022 04; 43(4):471-476. PMID: 35112409; PMCID: PMC8960367.
    Citations:    Fields:    Translation:Humans
  4. Hildebrandt C, Wilson CR, Kritzer A. Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. Child Abuse Negl. 2022 03; 125:105480. PMID: 35033936.
    Citations:    Fields:    Translation:Humans
  5. Gold NB, Kritzer A, Weiner DL, Michelson KA. Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159. PMID: 31738301.
    Citations:    Fields:    Translation:Humans
  6. Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan; 141(1):65-80. PMID: 34748075.
    Citations: 2     Fields:    Translation:Humans
  7. Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 07; 53(7):1006-1021. PMID: 34211179; PMCID: PMC8273149.
    Citations: 5     Fields:    Translation:HumansAnimals
  8. Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. PMID: 34186028; PMCID: PMC8387284.
    Citations:    Fields:    Translation:HumansAnimals
  9. Kritzer A, Tarrant S, Sussman-Karten K, Barbas K. Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. JIMD Rep. 2020 Sep; 55(1):44-50. PMID: 32905135; PMCID: PMC7463058.
    Citations: 1     
  10. Sacharow S, Papaleo C, Almeida K, Goodlett B, Kritzer A, Levy H, Martell L, Wessel A, Viau K. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. PMID: 32489881; PMCID: PMC7256053.
    Citations: 2     
  11. D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. PMID: 32022391.
    Citations: 1     Fields:    Translation:Humans
  12. Rohr F, Kritzer A, Harding CO, Viau K, Levy HL. Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. PMID: 31956506; PMCID: PMC6957825.
    Citations: 4     
  13. Kritzer A. Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism. Mol Genet Metab. 2020 01; 129(1):1-2. PMID: 31874740.
    Citations:    Fields:    Translation:Humans
  14. Kritzer A, Siddharth A, Leestma K, Bodamer O. Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Mol Genet Metab Rep. 2019 Dec; 21:100530. PMID: 31660293; PMCID: PMC6807367.
    Citations: 3     
  15. 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 08; 4(4). PMID: 29728376.
    Citations: 3     Fields:    Translation:HumansCellsPHPublic Health
  16. 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 11; 202:315-319.e2. PMID: 30057141.
    Citations:    Fields:    Translation:Humans
  17. 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 07; 198:313-316. PMID: 29681447.
    Citations:    Fields:    Translation:Humans
  18. 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. PMID: 29568536; PMCID: PMC5861599.
    Citations: 3     
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.