Search Results - Nicholas Ah Mew

  • Showing 1 - 5 results of 5
Refine Results
  1. 1

    P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis by Elizabeth Pickup, Kuntal Sen, Steven Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  2. 2

    Orthotopic Liver Transplantation in a Patient With GALT p.Ser135Leu/Null by Kara Simpson, Erin L. MacLeod, Julia Clayton, Nada A. Yazigi, M. Estela Rubio‐Gozalbo, Judith L. Fridovich‐Keil, Gerard T. Berry, Nicholas Ah Mew

    Published in JIMD Reports (2025-05-01)
    Get full text
    Article


  3. 3

    P007: A case series and functional study of two commonly reported pathogenic variants in OTC supports a hypomorphic classification by Steven Lang, Russell Lo, Gareth Cromie, Aimée Dudley, Nicholas Ah Mew, Vernon Sutton, Sandra Darilek, Saima Ali, Matthew Snyder, Brendan Lee, Ronit Marom, Sandesh Nagamani, Lindsay Burrage

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  4. 4

    P007: PP4 criteria specifications for proximal urea cycle disorders* by Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  5. 5

    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience by 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

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


Search Tools: