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  1. 581
    New mutation in Fabry disease: c.448delG, first phenotypic description

    New mutation in Fabry disease: c.448delG, first phenotypic description by Esteban Calabrese, Guillermo Rodriguez Botta, Paula Rozenfeld

    Published 2021-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  2. 582
    Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

    Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I by Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox, Yong Xue

    Published 2017-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  3. 583
    Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

    Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency by Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi

    Published 2023-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  4. 584
    Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL

    Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL by Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, Yoshiki Yamaguchi, Shoko Nishihara

    Published 2023-12-01
    “…Molecular Genetics and Metabolism Reports…”
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  5. 585
    Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

    Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin by C.A. González-Domínguez, A. Raya-Trigueros, S. Manrique-Hernández, A. González Jaimes, R. Salinas-Marín, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, C. Dehesa-Caballero, C. Alaez-Versón, I. Martínez-Duncker

    Published 2020-12-01
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  6. 586
    Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis

    Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis by Valentina Rovelli, Vittoria Ercoli, Alice Re Dionigi, Sabrina Paci, Elisabetta Salvatici, Juri Zuvadelli, Giuseppe Banderali

    Published 2023-09-01
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  7. 587
    α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

    α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response by Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi

    Published 2022-12-01
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  8. 588
    MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome

    MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome by Joonil Kim, Eungu Kang, Yoonmyung Kim, Jae-Min Kim, Beom Hee Lee, Kei Murayama, Gu-Hwan Kim, In Hee Choi, Kyung Mo Kim, Han-Wook Yoo

    Published 2016-09-01
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  9. 589
    Body fat percentage in adolescents with phenylketonuria and associated factors

    Body fat percentage in adolescents with phenylketonuria and associated factors by Giovanna Caliman Camatta, Viviane de Cássia Kanufre, Michelle Rosa Andrade Alves, Rosângelis Del Lama Soares, Rocksane de Carvalho Norton, Marcos José Burle de Aguiar, Ana Lúcia Pimenta Starling

    Published 2020-06-01
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  10. 590
    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations by Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard

    Published 2015-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  11. 591
    Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism

    Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism by Brian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, Kristina Cusmano, Kimberly Chapman, Marshall Summar

    Published 2017-12-01
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  12. 592
    Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats

    Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats by Juliette Janson, Gudrun Andersson, Lars Bergquist, Maria Eriksson, Joost H.A. Folgering

    Published 2020-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  13. 593
    The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation

    The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation by Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano

    Published 2020-12-01
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  14. 594
    Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population

    Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population by Oscar Werner, Lydia Ichay, Nabila Djouadi, Fernando Vetromile, Marie Vincenti, Sophie Guillaumont, Dominique P. Germain, Marc Fila

    Published 2024-03-01
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  15. 595
    Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation

    Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation by Claudio Carmine Guida, Maria Nardella, Aurora del Mar YS Perez, Maria Savino, Gaetano Ferrara, Francesco Napolitano, Annalisa Crisetti, Francesco Aucella, Filippo Aucella

    Published 2024-09-01
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  16. 596
    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene by Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai

    Published 2024-03-01
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  17. 597
    High frequency of biotinidase deficiency in Italian population identified by newborn screening

    High frequency of biotinidase deficiency in Italian population identified by newborn screening by Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca

    Published 2020-12-01
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  18. 598
    A different perspective into clinical symptoms in CPT I deficiency

    A different perspective into clinical symptoms in CPT I deficiency by Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay

    Published 2024-03-01
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  19. 599
    Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

    Analysis of body composition and nutritional status in Brazilian phenylketonuria patients by Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz

    Published 2016-03-01
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  20. 600
    Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review

    Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and lite... by Srividya Sreekantam, Laura Smith, Catherine Stewart, Shauna Kearney, Sarah Lawson, Julian Raiman, Suresh Vijay, Saikat Santra

    Published 2022-09-01
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