TY - JOUR AU - Suzuki, K. PY - 2003 DA - 2003// TI - Globoid cell leukodystrophy (Krabbe’s disease): update JO - J Child Neurol VL - 18 UR - https://doi.org/10.1177/08830738030180090201 DO - 10.1177/08830738030180090201 ID - Suzuki2003 ER - TY - JOUR AU - Wenger, D. A. AU - Rafi, M. A. AU - Luzi, P. PY - 2000 DA - 2000// TI - Krabbe disease: genetic aspects and progress toward therapy JO - Mol Genet Metab VL - 70 UR - https://doi.org/10.1006/mgme.2000.2990 DO - 10.1006/mgme.2000.2990 ID - Wenger2000 ER - TY - JOUR AU - Moser, H. W. PY - 2006 DA - 2006// TI - Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation JO - Neurology VL - 67 UR - https://doi.org/10.1212/01.wnl.0000231531.73713.a9 DO - 10.1212/01.wnl.0000231531.73713.a9 ID - Moser2006 ER - TY - JOUR AU - Castelvetri, L. C. AU - Givogri, M. I. AU - Zhu, H. PY - 2011 DA - 2011// TI - Axonopathy is a compounding factor in the pathogenesis of Krabbe disease JO - Acta Neuropathol VL - 122 UR - https://doi.org/10.1007/s00401-011-0814-2 DO - 10.1007/s00401-011-0814-2 ID - Castelvetri2011 ER - TY - JOUR AU - Hagberg, B. AU - Sourander, P. AU - Svennerholm, L. PY - 1963 DA - 1963// TI - Diagnosis of Krabbe’s infantile leucodystrophy JO - J Neurol Neurosurg Psychiatry VL - 26 UR - https://doi.org/10.1136/jnnp.26.3.195 DO - 10.1136/jnnp.26.3.195 ID - Hagberg1963 ER - TY - JOUR AU - Sakai, N. PY - 2009 DA - 2009// TI - Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment JO - Brain Dev VL - 31 UR - https://doi.org/10.1016/j.braindev.2009.03.001 DO - 10.1016/j.braindev.2009.03.001 ID - Sakai2009 ER - TY - JOUR AU - Brodsky, M. C. AU - Hunter, J. S. PY - 2011 DA - 2011// TI - Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease JO - J AAPOS VL - 15 UR - https://doi.org/10.1016/j.jaapos.2011.05.024 DO - 10.1016/j.jaapos.2011.05.024 ID - Brodsky2011 ER - TY - JOUR AU - Morse, L. E. AU - Rosman, N. P. PY - 2006 DA - 2006// TI - Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type JO - Pediatr Neurol VL - 35 UR - https://doi.org/10.1016/j.pediatrneurol.2006.02.004 DO - 10.1016/j.pediatrneurol.2006.02.004 ID - Morse2006 ER - TY - CHAP AU - Wenger, D. A. AU - Suzuki, K. AU - Suzuki, Y. AU - Suzuki, K. ED - Scriver, C. R. ED - Sly, W. S. ED - Childs, B. PY - 2001 DA - 2001// TI - Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease) BT - The metabolic and molecular bases of inherited disease PB - McGraw-Hill CY - New York ID - Wenger2001 ER - TY - JOUR AU - Duffner, P. K. AU - Jalal, K. AU - Carter, R. L. PY - 2009 DA - 2009// TI - The Hunter's hope Krabbe family database JO - Pediatr Neurol VL - 40 UR - https://doi.org/10.1016/j.pediatrneurol.2008.08.011 DO - 10.1016/j.pediatrneurol.2008.08.011 ID - Duffner2009 ER - TY - JOUR AU - Duffner, P. K. AU - Barczykowski, A. AU - Jalal, K. AU - Yan, L. AU - Kay, D. M. AU - Carter, R. L. PY - 2011 DA - 2011// TI - Early infantile Krabbe disease: results of the world-wide Krabbe registry JO - Pediatr Neurol VL - 45 UR - https://doi.org/10.1016/j.pediatrneurol.2011.05.007 DO - 10.1016/j.pediatrneurol.2011.05.007 ID - Duffner2011 ER - TY - CHAP AU - Wenger, D. A. AU - Escolar, M. L. AU - Luzi, P. AU - Rafi, M. A. PY - 2013 DA - 2013// TI - Krabbe disease (globoid cell leukodystrophy) BT - Scriver’s The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID) ID - Wenger2013 ER - TY - JOUR AU - Duffner, P. K. AU - Barczykowski, A. AU - Kay, D. M. AU - Jalal, K. AU - Yan, L. AU - Abdelhalim, A. AU - Gill, S. AU - Gill, A. L. AU - Carter, R. PY - 2012 DA - 2012// TI - Later onset phenotypes of Krabbe disease: results of the world-wide registry JO - Pediatr Neurol VL - 46 UR - https://doi.org/10.1016/j.pediatrneurol.2012.02.023 DO - 10.1016/j.pediatrneurol.2012.02.023 ID - Duffner2012 ER - TY - JOUR AU - Zhao, S. AU - Zhan, X. AU - Wang, Y. AU - Ye, J. AU - Han, L. AU - Qiu, W. AU - Gao, X. AU - Gu, X. AU - Zhang, H. PY - 2018 DA - 2018// TI - Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease JO - Clin Genet VL - 93 UR - https://doi.org/10.1111/cge.13071 DO - 10.1111/cge.13071 ID - Zhao2018 ER - TY - JOUR AU - Shao, Y. AU - Choquet, K. AU - Piana, R. L. PY - 2016 DA - 2016// TI - B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia JO - Neurogenetics VL - 17 UR - https://doi.org/10.1007/s10048-016-0476-2 DO - 10.1007/s10048-016-0476-2 ID - Shao2016 ER - TY - JOUR AU - Wenger, D. A. AU - Luzi, P. AU - Rafi, M. A. PY - 2014 DA - 2014// TI - Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? JO - Mol Genet Metab VL - 111 UR - https://doi.org/10.1016/j.ymgme.2013.12.009 DO - 10.1016/j.ymgme.2013.12.009 ID - Wenger2014 ER - TY - JOUR AU - Krabbe, K. PY - 1916 DA - 1916// TI - A new familial, infantile form of diffuse brain-sclerosis JO - Brain VL - 39 UR - https://doi.org/10.1093/brain/39.1-2.74 DO - 10.1093/brain/39.1-2.74 ID - Krabbe1916 ER - TY - JOUR AU - Hagberg, B. AU - Kollberg, H. AU - Sourander, P. AU - Akesson, H. O. PY - 1969 DA - 1969// TI - Infantile globoid cell leukodystrophy (Krabbe’s disease): a clinical and genetic study of 32 Swedish cases 1953-1967 JO - Neuropadiatrie VL - 1 UR - https://doi.org/10.1055/s-0028-1091865 DO - 10.1055/s-0028-1091865 ID - Hagberg1969 ER - TY - JOUR AU - Aldosari, M. AU - Altuwaijri, M. AU - Husain, A. M. PY - 2004 DA - 2004// TI - Brain-stem auditory and visual evoked potentials in children with Krabbe disease JO - Clin Neurophysiol VL - 115 UR - https://doi.org/10.1016/j.clinph.2004.02.022 DO - 10.1016/j.clinph.2004.02.022 ID - Aldosari2004 ER - TY - JOUR AU - Husain, A. M. AU - Altuwaijri, M. AU - Aldosari, M. PY - 2004 DA - 2004// TI - Krabbe disease neurophysiologic studies and MRI correlations JO - Neurology VL - 63 UR - https://doi.org/10.1212/01.WNL.0000134651.38196.F8 DO - 10.1212/01.WNL.0000134651.38196.F8 ID - Husain2004 ER - TY - JOUR AU - Escolar, M. L. AU - Poe, M. D. AU - Provenzale, J. M. PY - 2005 DA - 2005// TI - Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease JO - New Engl J Med VL - 352 UR - https://doi.org/10.1056/NEJMoa042604 DO - 10.1056/NEJMoa042604 ID - Escolar2005 ER - TY - JOUR AU - Lim, Z. Y. AU - Ho, A. Y. AU - Abrahams, S. PY - 2008 DA - 2008// TI - Sustained neurological improvement following reduced-intensity conditioning allogenic hematopoietic stem cell transplantation for late-onset Krabbe disease JO - Bone Marrow Transpl VL - 41 UR - https://doi.org/10.1038/sj.bmt.1705984 DO - 10.1038/sj.bmt.1705984 ID - Lim2008 ER - TY - JOUR AU - Escolar, M. L. AU - Yelin, K. AU - Poe, M. D. PY - 2006 DA - 2006// TI - Neurodevelopmental outcomes of children with infantile Krabbe disease treated with umbilical cord blood transplantation: 10 years of follow up JO - CML: Lysosomal Storage Disease VL - 6 ID - Escolar2006 ER - TY - JOUR AU - Escolar, M. L. AU - Poe, M. D. AU - Martin, H. R. AU - Kurtzberg, J. PY - 2006 DA - 2006// TI - A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation JO - Pediatrics VL - 118 UR - https://doi.org/10.1542/peds.2006-0747 DO - 10.1542/peds.2006-0747 ID - Escolar2006 ER - TY - JOUR AU - Lantos, J. D. PY - 2011 DA - 2011// TI - Dangerous and expensive screening and treatment for rare childhood diseases: the case of krabbe disease JO - Dev Disabil Res Rev VL - 17 UR - https://doi.org/10.1002/ddrr.133 DO - 10.1002/ddrr.133 ID - Lantos2011 ER - TY - JOUR AU - Orsini, J. J. AU - Saavedra-Matiz, C. A. AU - Gelb, M. H. AU - Caggana, M. PY - 2016 DA - 2016// TI - Newborn screening for Krabbe's disease JO - J Neurosci Res VL - 94 UR - https://doi.org/10.1002/jnr.23781 DO - 10.1002/jnr.23781 ID - Orsini2016 ER - TY - JOUR AU - Wasserstein, M. P. AU - Andriola, M. AU - Arnold, G. AU - Aron, A. AU - Duffner, P. AU - Erbe, R. W. AU - Escolar, M. L. AU - Estrella, L. AU - Galvin-Parton, P. AU - Iglesias, A. AU - Kay, D. M. PY - 2016 DA - 2016// TI - Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York state JO - Genet Med VL - 18 UR - https://doi.org/10.1038/gim.2016.35 DO - 10.1038/gim.2016.35 ID - Wasserstein2016 ER - TY - JOUR AU - Kwon, J. M. AU - Matern, D. AU - Kurtzberg, J. AU - Wrabetz, L. AU - Gelb, M. H. AU - Wenger, D. A. AU - Ficicioglu, C. AU - Waldman, A. T. AU - Burton, B. K. AU - Hopkins, P. V. AU - Orsini, J. J. PY - 2018 DA - 2018// TI - Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease JO - Orphanet J Rare Dis VL - 13 UR - https://doi.org/10.1186/s13023-018-0766-x DO - 10.1186/s13023-018-0766-x ID - Kwon2018 ER - TY - JOUR AU - Escolar, M. L. AU - Kiely, B. AU - Shawgo PY - 2017 DA - 2017// TI - Psychosine, a marker of Krabbe phenotype and treatment effect JO - Mol Genet Metab VL - 121 UR - https://doi.org/10.1016/j.ymgme.2017.05.015 DO - 10.1016/j.ymgme.2017.05.015 ID - Escolar2017 ER - TY - JOUR AU - Biffi, A. AU - Aubourg, P. AU - Cartier, N. PY - 2011 DA - 2011// TI - Gene therapy for leukodystrophies JO - Hum Mol Genet VL - 20 UR - https://doi.org/10.1093/hmg/ddr142 DO - 10.1093/hmg/ddr142 ID - Biffi2011 ER - TY - JOUR AU - Matthes, F. AU - Andersson, C. AU - Stein, A. PY - 2015 DA - 2015// TI - Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy JO - Exp Neurol VL - 271 UR - https://doi.org/10.1016/j.expneurol.2015.04.020 DO - 10.1016/j.expneurol.2015.04.020 ID - Matthes2015 ER - TY - JOUR AU - Martin, H. R. AU - Poe, M. D. AU - Reinhartsen, D. PY - 2008 DA - 2008// TI - Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective JO - Acta Paediatr Suppl VL - 97 UR - https://doi.org/10.1111/j.1651-2227.2008.00651.x DO - 10.1111/j.1651-2227.2008.00651.x ID - Martin2008 ER - TY - BOOK AU - Bruininks, R. H. AU - Woodcock, R. W. AU - Weatherman, R. F. AU - Hill, B. K. PY - 1996 DA - 1996// TI - Scales of independent behavior-revised PB - Riverside Publishing CY - Itasca ID - Bruininks1996 ER - TY - STD TI - Folio MR, Fewell RR. Peabody developmental motor scales, 2nd ed. Austin: Pro-Ed; 2000. ID - ref34 ER - TY - BOOK AU - Mullen, E. M. PY - 1995 DA - 1995// TI - Mullen scales of early learning AGS edition PB - American Guidance Service. Inc. CY - Circle Pines ID - Mullen1995 ER - TY - STD TI - Russell DJ, Rosenbaum PL, Wright M, Avery LM. Gross motor function measure (GMFM-66 and GMFM-88) User's manual. 2nd ed. London: Mac Keith Press; 2013. ID - ref36 ER - TY - STD TI - Burger-Caplan R, Saulnier CA, Sparrow SS. Vineland adaptive behavior scales. InEncyclopedia of clinical neuropsychology: Springer International Publishing; 2018. p. 1–5. ID - ref37 ER - TY - JOUR AU - Kuczmarski, R. J. AU - Ogden, C. L. AU - Guo, S. S. PY - 2002 DA - 2002// TI - 2000 CDC growth charts for the United States: methods and development JO - National Center for Health Statistics Vital Health Stat VL - 11 ID - Kuczmarski2002 ER - TY - BOOK AU - den Dunnen, J. T. PY - 2017 DA - 2017// TI - Describing sequence variants using HGVS nomenclature. InGenotyping PB - Humana press CY - New York ID - den Dunnen2017 ER -