Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide
- 1 March 2021
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in Pediatrics in Review
- Vol. 42 (3), 133-146
- https://doi.org/10.1542/pir.2019-0184
Abstract
No abstract availableThis publication has 25 references indexed in Scilit:
- Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological studyDevelopmental Medicine and Child Neurology, 2016
- Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine SamplesClinical Chemistry, 2016
- Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort reportOrphanet Journal of Rare Diseases, 2015
- Newborn screening for lysosomal storage disordersSeminars in Perinatology, 2015
- Consensus statement on preventive and symptomatic care of leukodystrophy patientsMolecular Genetics and Metabolism, 2015
- A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesMolecular Genetics and Metabolism, 2015
- Case definition and classification of leukodystrophies and leukoencephalopathiesMolecular Genetics and Metabolism, 2015
- Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patientsEuropean Journal of Neurology, 2014
- Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophiesZeitschrift für Neurologie, 2014
- The burden of inherited leukodystrophies in childrenNeurology, 2010