Hasil Pencarian - Eva Morava

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  1. 1
    Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

    Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) oleh Peter Witters, David Cassiman, Eva Morava

    Diterbitkan 2017-11-01
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  2. 2
    Normal transferrin glycosylation does not rule out severe ALG1 deficiency

    Normal transferrin glycosylation does not rule out severe ALG1 deficiency oleh Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava

    Diterbitkan 2024-05-01
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  3. 3
    Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

    Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon oleh Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Eva Morava, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker, Iván Martínez-Duncker

    Diterbitkan 2022-10-01
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  4. 4
    Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants

    Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants oleh Jehan Mousa, Larissa Veres, Anab Mohamed, Diederik De Graef, Eva Morava

    Diterbitkan 2022-09-01
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  5. 5
    Aerobic exercise in children with oxidative phosphorylation defects

    Aerobic exercise in children with oxidative phosphorylation defects oleh Luuk Schreuder, Gera Peters, Ria Nijhuis-van der Sanden, Eva Morava

    Diterbitkan 2010-03-01
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  6. 6
    Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

    Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature oleh Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava

    Diterbitkan 2020-11-01
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  7. 7
    Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice

    Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice oleh Graeme Preston, Tim Emmerzaal, Faisal Kirdar, Laura Schrader, Marloes Henckens, Eva Morava, Tamas Kozicz

    Diterbitkan 2020-07-01
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  8. 8
    Congenital disorders of glycosylation: narration of a story through its patents

    Congenital disorders of glycosylation: narration of a story through its patents oleh Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis

    Diterbitkan 2023-08-01
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  9. 9
    O05: Fractionated plasma N-glycan analysis identifies sensitive diagnostic biomarkers for congenital disorders of glycosylation (CDG)

    O05: Fractionated plasma N-glycan analysis identifies sensitive diagnostic biomarkers for congenital disorders of glycosylation (CDG) oleh Earnest James Paul Daniel, Andrew Edmondson, Eva Morava-Kozicz, Hudson H. Freeze, Miao He

    Diterbitkan 2023-01-01
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  10. 10
    Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

    Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG) oleh Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

    Diterbitkan 2023-03-01
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  11. 11
    Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice

    Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice oleh Graeme Preston, Tim Emmerzaal, Silvia Radenkovic, Ian R. Lanza, Devin Oglesbee, Eva Morava, Tamas Kozicz

    Diterbitkan 2021-05-01
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  12. 12
    Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

    Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation oleh Cláudia de Freitas, Vanessa dos Reis, Susana Silva, Paula A. Videira, Eva Morava, Jaak Jaeken

    Diterbitkan 2017-09-01
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  13. 13
    PMM2‐CDG caused by uniparental disomy: Case report and literature review

    PMM2‐CDG caused by uniparental disomy: Case report and literature review oleh Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava

    Diterbitkan 2020-07-01
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  14. 14
    N-Glycosylation influences human corticosteroid-binding globulin measurements

    N-Glycosylation influences human corticosteroid-binding globulin measurements oleh Lesley A Hill, Zeynep Sumer-Bayraktar, John G Lewis, Eva Morava, Morten Thaysen-Andersen, Geoffrey L Hammond

    Diterbitkan 2019-08-01
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  15. 15
    P341: Identification of novel variants and phenotypic expansion in OGT-CDG

    P341: Identification of novel variants and phenotypic expansion in OGT-CDG oleh Jan Verheijen, Lotte Vanhye, Ayesha Niaz Shaikh, Silvia Radenkovic, Wasantha Ranatunga, Pavel Pichurin, Joan Steyermark, Eric Klee, Eva Morava-Kozicz

    Diterbitkan 2023-01-01
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  16. 16
    D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

    D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial oleh Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava

    Diterbitkan 2021-03-01
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  17. 17
    Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice

    Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice oleh Anouk C. Tengeler, Tim L. Emmerzaal, Bram Geenen, Vivienne Verweij, Miranda van Bodegom, Eva Morava, Amanda J. Kiliaan, Tamas Kozicz

    Diterbitkan 2021-06-01
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  18. 18
    Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

    Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study oleh Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava

    Diterbitkan 2021-02-01
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  19. 19
    PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

    PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations oleh Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange

    Diterbitkan 2023-11-01
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  20. 20
    CDG Therapies: From Bench to Bedside

    CDG Therapies: From Bench to Bedside oleh Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A. Videira, Eva Morava, Jaak Jaeken, Vanessa dos Reis Ferreira

    Diterbitkan 2018-04-01
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