Hasil Pencarian - William B. Hannah

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  1. 1
    Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

    Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease oleh Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani

    Diterbitkan 2020-06-01
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  2. 2
    A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis

    A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis oleh William B. Hannah, Gregory Nizialek, Katherine J. Dempsey, Keith B. Armitage, Shawn E. McCandless, Laura L. Konczal

    Diterbitkan 2021-12-01
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  3. 3
    Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

    Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy oleh William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

    Diterbitkan 2023-09-01
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  4. 4
    Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

    Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia oleh William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani

    Diterbitkan 2022-06-01
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  5. 5
    The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

    The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia oleh William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala

    Diterbitkan 2019-09-01
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  6. 6
    Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

    Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant oleh William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. Bedoyan

    Diterbitkan 2019-12-01
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  7. 7
    Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.

    Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibro... oleh Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker

    Diterbitkan 2018-01-01
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