244 related articles for article (PubMed ID: 32576142)
1. Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Ge H; Wu Q; Lu H; Huang Y; Zhou T; Tan D; ZhongqinJin
BMC Med Genet; 2020 Jun; 21(1):135. PubMed ID: 32576142
[TBL] [Abstract][Full Text] [Related]
2. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K; Zou L; Wang L; Chen L; Wang JS
J Hum Genet; 2020 Apr; 65(4):387-396. PubMed ID: 31965062
[TBL] [Abstract][Full Text] [Related]
3. 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
Eur J Med Genet; 2020 Aug; 63(8):103952. PubMed ID: 32422350
[TBL] [Abstract][Full Text] [Related]
4. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA; de Sain-van der Velden MGM; Prinsen HCMT; Willems AP; van der Ham M; Gerrits J; Couse MH; Friedman JM; van Karnebeek CDM; Selby KA; van Hasselt PM; Verhoeven-Duif NM; Jans JJM
Mol Genet Metab; 2019 Aug; 127(4):368-372. PubMed ID: 31311714
[TBL] [Abstract][Full Text] [Related]
5. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Heeley J; Shinawi M
Am J Med Genet A; 2015 Apr; 167A(4):816-20. PubMed ID: 25707956
[TBL] [Abstract][Full Text] [Related]
6. Liver involvement in NGLY1 congenital disorder of deglycosylation.
Lipiński P; Cielecka-Kuszyk J; Socha P; Tylki-Szymańska A
Pol J Pathol; 2020; 71(1):66-68. PubMed ID: 32429657
[TBL] [Abstract][Full Text] [Related]
7. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y; Fujita A; Torio M; Mukaino T; Sakata A; Matsukura M; Yonemoto K; Hatae K; Ichimiya Y; Chong PF; Ochiai M; Wada Y; Kadoya M; Okamoto N; Murakami Y; Suzuki T; Isobe N; Shigeto H; Matsumoto N; Sakai Y; Ohga S
Eur J Med Genet; 2024 Feb; 67():104895. PubMed ID: 38070824
[TBL] [Abstract][Full Text] [Related]
8. Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X; Wu J; Chen H; Lu G
Nutrients; 2022 Apr; 14(9):. PubMed ID: 35565658
[TBL] [Abstract][Full Text] [Related]
9. NGLY1 deficiency: Novel variants and literature review.
Kariminejad A; Shakiba M; Shams M; Namiranian P; Eghbali M; Talebi S; Makvand M; Jaeken J; Najmabadi H; Hennekam RC
Eur J Med Genet; 2021 Mar; 64(3):104146. PubMed ID: 33497766
[TBL] [Abstract][Full Text] [Related]
10. [Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency].
Lipiński P; Tylki-Szymańska A
Postepy Biochem; 2020 Mar; 66(1):38-41. PubMed ID: 33320481
[TBL] [Abstract][Full Text] [Related]
11. Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.
Nolan DK; Pastore MT; McBride KL
Eur J Med Genet; 2022 Aug; 65(8):104558. PubMed ID: 35779835
[TBL] [Abstract][Full Text] [Related]
12. 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
Mol Genet Metab; 2018 May; 124(1):82-86. PubMed ID: 29550355
[TBL] [Abstract][Full Text] [Related]
13. Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
van Keulen BJ; Rotteveel J; Finken MJJ
Physiol Rep; 2019 Feb; 7(3):e13979. PubMed ID: 30740912
[TBL] [Abstract][Full Text] [Related]
14. Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Asahina M; Fujinawa R; Nakamura S; Yokoyama K; Tozawa R; Suzuki T
Hum Mol Genet; 2020 Jun; 29(10):1635-1647. PubMed ID: 32259258
[TBL] [Abstract][Full Text] [Related]
15. NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A; Adams JM; Han SY; Jafar-Nejad H
Cells; 2022 Mar; 11(7):. PubMed ID: 35406718
[No Abstract] [Full Text] [Related]
16. An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Yang S; Cheng YS; Li R; Pradhan M; Hong J; Beers J; Zou J; Liu C; Might M; Rodems S; Zheng W
Stem Cell Res; 2019 Aug; 39():101496. PubMed ID: 31326749
[TBL] [Abstract][Full Text] [Related]
17. Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Owings KG; Lowry JB; Bi Y; Might M; Chow CY
Hum Mol Genet; 2018 Mar; 27(6):1055-1066. PubMed ID: 29346549
[TBL] [Abstract][Full Text] [Related]
18. Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a
Rodriguez TP; Mast JD; Hartl T; Lee T; Sand P; Perlstein EO
G3 (Bethesda); 2018 Jul; 8(7):2193-2204. PubMed ID: 29735526
[TBL] [Abstract][Full Text] [Related]
19. 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
Genet Med; 2017 Feb; 19(2):160-168. PubMed ID: 27388694
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
