BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 32422350)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 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. 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]  

  • 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. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
    Panneman DM; Wortmann SB; Haaxma CA; van Hasselt PM; Wolf NI; Hendriks Y; Küsters B; van Emst-de Vries S; van de Westerlo E; Koopman WJH; Wintjes L; van den Brandt F; de Vries M; Lefeber DJ; Smeitink JAM; Rodenburg RJ
    Clin Genet; 2020 Apr; 97(4):556-566. PubMed ID: 31957011
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
    Yang K; Huang R; Fujihira H; Suzuki T; Yan N
    J Exp Med; 2018 Oct; 215(10):2600-2616. PubMed ID: 30135079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
    Tambe MA; Ng BG; Freeze HH
    Cell Rep; 2019 Dec; 29(13):4620-4631.e4. PubMed ID: 31875565
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial function requires NGLY1.
    Kong J; Peng M; Ostrovsky J; Kwon YJ; Oretsky O; McCormick EM; He M; Argon Y; Falk MJ
    Mitochondrion; 2018 Jan; 38():6-16. PubMed ID: 28750948
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.