Hasil Pencarian - Erin Huggins

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  1. 1
    P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III

    P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III oleh Erin Huggins, David Jackson, Priya Kishnani

    Diterbitkan 2024-01-01
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  2. 2
    Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III

    Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III oleh Erin Huggins, David G. Jackson, Sarah P. Young, Priya S. Kishnani

    Diterbitkan 2024-09-01
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  3. 3
    The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

    The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease oleh Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani

    Diterbitkan 2021-06-01
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  4. 4
    Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

    Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management oleh Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani

    Diterbitkan 2020-12-01
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  5. 5
    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening oleh Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Deeksha S. Bali, Priya S. Kishnani

    Diterbitkan 2022-09-01
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  6. 6
    Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

    Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening oleh David G. Jackson, Laura E. Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S. Kishnani

    Diterbitkan 2023-09-01
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  7. 7
    Glucosylsphingosine (Lyso-Gb<sub>1</sub>): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

    Glucosylsphingosine (Lyso-Gb<sub>1</sub>): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease oleh Matthew M. Gayed, Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, Ashlee R. Stiles

    Diterbitkan 2022-11-01
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