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Quoted phrase not found in phrase index: "Congenital disorder of deglycosylation 2"
Page 1
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Levy RJ, et al. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11. J Inherit Metab Dis. 2022. PMID: 35243670
We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi-allelic (likely) pathogenic variants in NGLY1 as part of …
We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collec …
How do genetic tests answer questions about neurodevelopmental differences? A sociological take.
Navon D. Navon D. Dev Med Child Neurol. 2022 Dec;64(12):1462-1469. doi: 10.1111/dmcn.15376. Epub 2022 Aug 13. Dev Med Child Neurol. 2022. PMID: 35962997 Free article. Review.
If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 deletion syndromes on people with neurodevelopmental differences, we must be mindful about what exactly a genetic test is supposed to tell us, …
If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 de …
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. 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.
PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the beta-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 …
PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the beta-aspartyl glycosylamine bond of N-linked glycop …
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN. Stanclift CR, et al. Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. Orphanet J Rare Dis. 2022. PMID: 36528660 Free PMC article.
PURPOSE: NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. ...METHODS: The Grace Science Foundation collected genotypic data from 74 NGLY1 Deficiency patients, of which 37 also provided phenotypic d …
PURPOSE: NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. ...METHODS: T …
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Rios-Flores IM, Bonal-Pérez MÁ, Castellanos-González A, Velez-Gómez E, Bertoli-Avella AM, Bobadilla-Morales L, Peña-Padilla C, Appendini-Andrade V, Corona-Rivera A, Romero-Valenzuela I, Corona-Rivera JR. Rios-Flores IM, et al. Eur J Med Genet. 2020 Aug;63(8):103952. doi: 10.1016/j.ejmg.2020.103952. Epub 2020 May 15. Eur J Med Genet. 2020. PMID: 32422350
Further reports are required in order to know the long-term prognosis of ALF in patients with NGLY1-CDDG....
Further reports are required in order to know the long-term prognosis of ALF in patients with NGLY1-CDDG....
Liver failure and x-linked immunodeficiency type 47.
Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G. Gumm AJ, et al. Pediatr Transplant. 2020 Dec;24(8):e13808. doi: 10.1111/petr.13808. Epub 2020 Aug 13. Pediatr Transplant. 2020. PMID: 32790950
Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.
Trowbridge A, Stewart MT, Rhee E, Hwang JM. Trowbridge A, et al. J Palliat Med. 2017 Jan;20(1):104-106. doi: 10.1089/jpm.2016.0232. Epub 2016 Dec 6. J Palliat Med. 2017. PMID: 27923105
In addition to grappling with a life-limiting diagnosis, families face complexity in decision making stemming from the prognostic uncertainty surrounding their child's rare condition. We discuss several unique challenges, illustrated through case studies of three children …
In addition to grappling with a life-limiting diagnosis, families face complexity in decision making stemming from the prognostic unc …
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.
The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. CONCLUSION: NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal t …
The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. CONCLUSION: NGLY1 deficiency is a novel a …