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Page 1
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A. Armangue T, et al. Among authors: mercimek andrews s. AJNR Am J Neuroradiol. 2024 May 2. doi: 10.3174/ajnr.A8220. Online ahead of print. AJNR Am J Neuroradiol. 2024. PMID: 38697787
Dodecyl creatine ester therapy: from promise to reality.
Mabondzo A, van de Kamp J, Mercimek-Andrews S. Mabondzo A, et al. Among authors: mercimek andrews s. Cell Mol Life Sci. 2024 Apr 17;81(1):186. doi: 10.1007/s00018-024-05218-y. Cell Mol Life Sci. 2024. PMID: 38632116 Free PMC article.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: mercimek andrews s. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S. Almenabawy N, et al. Among authors: mercimek andrews s. Mol Genet Metab Rep. 2024 Jan 25;38:101055. doi: 10.1016/j.ymgmr.2024.101055. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469090 Free PMC article.
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S. Goldstein J, et al. Among authors: mercimek andrews s. Mol Genet Metab. 2024 May;142(1):108362. doi: 10.1016/j.ymgme.2024.108362. Epub 2024 Mar 2. Mol Genet Metab. 2024. PMID: 38452609
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia.
Otero MG, Kim J, Kushwaha YK, Rajewski A, Nonis FD, Santiskulvong C, Bannykh SI, Oza H, Farooqi HMU, Babros M, Freeman C, Dupuis L, Mercimek-Andrews S, Mendoza-Londono R, Bresee C, Adams DR, Tifft CJ, Toro C, Khanlou N, Gahl WA, Salamon N, Pierson TM. Otero MG, et al. Among authors: mercimek andrews s. bioRxiv [Preprint]. 2024 Jan 30:2024.01.29.577876. doi: 10.1101/2024.01.29.577876. bioRxiv. 2024. PMID: 38352418 Free PMC article. Preprint.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: mercimek andrews s. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
73 results