Browsing by Subject "Leukodystrophy, Globoid Cell"

Now showing items 1-8 of 8

    • Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. 

      Wasserstein, Melissa P; Andriola, Mary; Arnold, Georgianne; Aron, Alan; Duffner, Patricia; Erbe, Richard W; Escolar, Maria L; ... (22 authors) (Genetics in medicine : official journal of the American College of Medical Genetics, 2016-12)
      <h4>Background</h4>Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe ...

    • Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. 

      Kwon, Jennifer M; Matern, Dietrich; Kurtzberg, Joanne; Wrabetz, Lawrence; Gelb, Michael H; Wenger, David A; Ficicioglu, Can; ... (11 authors) (Orphanet journal of rare diseases, 2018-02)
      BACKGROUND:Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human ...

    • Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. 

      Thompson-Stone, Robert; Ream, Margie A; Gelb, Michael; Matern, Dietrich; Orsini, Joseph J; Levy, Paul A; Rubin, Jennifer P; ... (11 authors) (Molecular genetics and metabolism, 2021-09)
      <h4>Objective</h4>To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who ...

    • Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. 

      Page, Kristin M; Stenger, Elizabeth O; Connelly, James A; Shyr, David; West, Tara; Wood, Susan; Case, Laura; ... (16 authors) (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2019-12)
      The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic ...

    • Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. 

      Liao, Hsuan-Chieh; Spacil, Zdenek; Ghomashchi, Farideh; Escolar, Maria L; Kurtzberg, Joanne; Orsini, Joseph J; Turecek, Frantisek; ... (9 authors) (Clinical chemistry, 2017-08)
      <h4>Background</h4>Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive ...

    • Making Decisions About Krabbe Disease Newborn Screening. 

      Kurtzberg, Joanne; Matern, Dietrich; Orsini, Joseph J; Gelb, Michael; Pike-Langenfeld, Stacy; Brackbill, Lesa; Grantham, Anna; ... (8 authors) (Pediatrics, 2022-08)

    • Newborn screening for Krabbe disease in New York State: the first eight years' experience. 

      Orsini, Joseph J; Kay, Denise M; Saavedra-Matiz, Carlos A; Wenger, David A; Duffner, Patricia K; Erbe, Richard W; Biski, Chad; ... (24 authors) (Genetics in medicine : official journal of the American College of Medical Genetics, 2016-03)
      <h4>Purpose</h4>Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is ...

    • The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. 

      Guenzel, Adam J; Turgeon, Coleman T; Nickander, Kim K; White, Amy L; Peck, Dawn S; Pino, Gisele B; Studinski, April L; ... (24 authors) (Genetics in medicine : official journal of the American College of Medical Genetics, 2020-06)
      <h4>Purpose</h4>Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine ...