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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. Schwahn BC, et al. Among authors: feigenbaum a. JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154053 Free PMC article.
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: feigenbaum as. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. Science. 2010. PMID: 20847235
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Lamoureux MF, et al. Among authors: feigenbaum a. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. Kingsmore SF, et al. Among authors: feigenbaum a. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004705. doi: 10.1101/mcs.a004705. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014857 Free PMC article.
216 results