Cargando…

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

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 stem cell transplantation which improves survival and clinical outcomes. Howeve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kwon, Jennifer M., Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H., Wenger, David A., Ficicioglu, Can, Waldman, Amy T., Burton, Barbara K., Hopkins, Patrick V., Orsini, Joseph J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796396/ https://www.ncbi.nlm.nih.gov/pubmed/29391017 http://dx.doi.org/10.1186/s13023-018-0766-x

Ejemplares similares

Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease
por: Page, Kristin M., et al.
Publicado: (2022)

Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration
por: Kreher, Conlan, et al.
Publicado: (2022)

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
por: Corre, Camille S., et al.
Publicado: (2021)

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease
por: Herbst, Zackary, et al.
Publicado: (2020)

Optic nerve enlargement in infantile form of Krabbe disease
por: Castilha-Neto, Dimas, et al.
Publicado: (2012)

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries
por: Blackwell, Karlita, et al.
Publicado: (2020)

Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
por: Langan, Thomas J., et al.
Publicado: (2019)

Report of a Case that Expands the Phenotype of Infantile Krabbe Disease
por: Nashabat, Marwan, et al.
Publicado: (2019)

Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease
por: Weinstock, Nadav I., et al.
Publicado: (2020)

Advances in the Diagnosis and Treatment of Krabbe Disease
por: Wenger, David A, et al.
Publicado: (2021)

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports
por: Vargiami, E, et al.
Publicado: (2016)

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease
por: Gupta, A., et al.
Publicado: (2014)

Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease
por: Basheeruddin, Khaja, et al.
Publicado: (2021)

New tools and approaches to newborn screening: ready to open Pandora's box?
por: Ficicioglu, Can
Publicado: (2017)

Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease
por: Rafi, Mohammad A., et al.
Publicado: (2020)

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease
por: Iacono, Diego, et al.
Publicado: (2022)

From national newborn guidelines to international consensus
por: Erdeve, Ömer, et al.
Publicado: (2018)

Neuroimmune mechanisms in Krabbe's disease
por: Potter, Gregory B., et al.
Publicado: (2016)

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening
por: Gold, Jessica I., et al.
Publicado: (2021)

The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease
por: Martin, Monica M., et al.
Publicado: (2020)

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
por: Beltran-Quintero, Maria L., et al.
Publicado: (2019)

Azasugar inhibitors as pharmacological chaperones for Krabbe disease
por: Hill, Chris H., et al.
Publicado: (2015)

Gene therapy for CNS diseases – Krabbe disease
por: Rafi, Mohammad A.
Publicado: (2016)

Krabbe disease: New hope for an old disease
por: Bradbury, Allison M., et al.
Publicado: (2021)

Krabbe disease: A personal perspective and hypothesis
por: Rafi, Mohammad A.
Publicado: (2022)

Neurodegenerative Disorder Risk in Krabbe Disease Carriers
por: Vantaggiato, Lorenza, et al.
Publicado: (2022)

The Effects of Antipsychotics in Experimental Models of Krabbe Disease
por: Sharma, Kapil, et al.
Publicado: (2023)

Globoid Cell Leukodystrophy (Krabbe Disease): An Update
por: Maghazachi, Azzam A
Publicado: (2023)

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction
por: Li, Cindy, et al.
Publicado: (2021)

Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation
por: Kofler, Julia, et al.
Publicado: (2022)

Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin
por: Fukazawa, Ryosuke, et al.
Publicado: (2020)

National U.S. Patient and Transplant Data for Krabbe Disease
por: Ghabash, Gabrielle, et al.
Publicado: (2021)

Efficacy and Safety of a Krabbe Disease Gene Therapy
por: Hordeaux, Juliette, et al.
Publicado: (2022)

Mechanotransduction Impairment in Primary Fibroblast Model of Krabbe Disease
por: Mezzena, Roberta, et al.
Publicado: (2023)

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
por: Brower, Amy, et al.
Publicado: (2022)

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants
por: Spratley, Samantha J., et al.
Publicado: (2016)

New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones
por: Spratley, Samantha J., et al.
Publicado: (2016)

Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease
por: Katabuchi, Asaka U., et al.
Publicado: (2018)

Genotype and phenotype classification of 29 patients affected by Krabbe disease
por: Madsen, Anna M. H., et al.
Publicado: (2019)

Fingolimod Rescues Demyelination in a Mouse Model of Krabbe's Disease
por: Béchet, Sibylle, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_gnaaame25ke0lt04hopdoh4ksg