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Page 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: ferreira c, ferreira v. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Among authors: ferreira c. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355 Free PMC article.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Assessing the effects of PMM2 variants on protein stability.
Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha JF, Teixeira Carla SS, Ferreira CR, Sousa SF, Azevedo L. Quelhas D, et al. Among authors: ferreira cr. Mol Genet Metab. 2021 Dec;134(4):344-352. doi: 10.1016/j.ymgme.2021.11.002. Epub 2021 Nov 8. Mol Genet Metab. 2021. PMID: 34863624
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: ferreira c. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. Briere LC, et al. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33811063 Free PMC article.
3,477 results