Hasil Pencarian - Saadet Mercimek-Andrews

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  1. 1
    Inherited Metabolic Disorders Presenting with Ataxia

    Inherited Metabolic Disorders Presenting with Ataxia oleh Grace Silver, Saadet Mercimek-Andrews

    Diterbitkan 2020-08-01
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  2. 2
    Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

    Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy oleh Sarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-Andrews

    Diterbitkan 2021-06-01
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  3. 3
    NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy

    NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy oleh Shaymaa Shurrab, Dawn Cordeiro, Saadet Mercimek-Andrews, Andrew Y․ Shuen

    Diterbitkan 2023-03-01
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  4. 4
    Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

    Urine creatine metabolite panel as a screening test in neurodevelopmental disorders oleh Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews

    Diterbitkan 2020-12-01
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  5. 5
    Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

    Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic oleh Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews

    Diterbitkan 2020-01-01
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  6. 6
    Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

    Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic oleh Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews

    Diterbitkan 2022-09-01
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  7. 7
    Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta

    Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta oleh Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews

    Diterbitkan 2024-03-01
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  8. 8
    High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

    High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses oleh Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews

    Diterbitkan 2019-11-01
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  9. 9
    Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

    Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? oleh Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Andrews

    Diterbitkan 2021-01-01
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  10. 10
    Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

    Hyperleucinosis during infections in maple syrup urine disease post liver transplantation oleh Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews

    Diterbitkan 2021-06-01
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  11. 11
    Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

    Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. oleh Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews

    Diterbitkan 2017-01-01
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  12. 12
    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients oleh Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Diterbitkan 2020-01-01
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  13. 13
    A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients

    A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients oleh Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. Poulin, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei, Wuh-Liang Hwu

    Diterbitkan 2024-01-01
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  14. 14
    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*

    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes* oleh Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews

    Diterbitkan 2024-01-01
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  15. 15
    Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

    Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey oleh Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell

    Diterbitkan 2023-08-01
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  16. 16
    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience oleh Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao

    Diterbitkan 2023-01-01
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  17. 17
    Functional divergence of the two Elongator subcomplexes during neurodevelopment

    Functional divergence of the two Elongator subcomplexes during neurodevelopment oleh Monika Gaik, Marija Kojic, Megan R Stegeman, Tülay Öncü‐Öner, Anna Kościelniak, Alun Jones, Ahmed Mohamed, Pak Yan Stefanie Chau, Sazia Sharmin, Andrzej Chramiec‐Głąbik, Paulina Indyka, Michał Rawski, Anna Biela, Dominika Dobosz, Amanda Millar, Vann Chau, Aycan Ünalp, Michael Piper, Mark C Bellingham, Evan E Eichler, Deborah A Nickerson, Handan Güleryüz, Nour El Hana Abbassi, Konrad Jazgar, Melissa J Davis, Saadet Mercimek‐Andrews, Sultan Cingöz, Brandon J Wainwright, Sebastian Glatt

    Diterbitkan 2022-07-01
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  18. 18
    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines oleh Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

    Diterbitkan 2021-09-01
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  19. 19
    Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

    Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency oleh Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty

    Diterbitkan 2024-01-01
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  20. 20
    Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

    Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me... oleh Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

    Diterbitkan 2020-04-01
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