Krabbe disease (English Wikipedia)

Duffner, Patricia K.; Barczykowski, Amy; Jalal, Kabir; Yan, Li; Kay, Denise M.; Carter, Randy L. (September 2011). "Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry". Pediatric Neurology. 45 (3): 141–148. doi:10.1016/j.pediatrneurol.2011.05.007. PMID 21824559.
Li, Y; Sands, MS (November 2014). "Experimental therapies in the murine model of globoid cell leukodystrophy". Pediatric Neurology (Review). 51 (5): 600–6. doi:10.1016/j.pediatrneurol.2014.08.003. PMC 4252788. PMID 25240259.
Hussain, S. A.; Zimmerman, H. H.; Abdul-Rahman, O. A.; Hussaini, S. M.; Parker, C. C.; Khan, M. (May 2011). "Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective". Journal of Child Neurology. 26 (5): 642–644. doi:10.1177/0883073810387929. PMID 21285037. S2CID 22242663.
Cannizzaro, L.A. (1994). "Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization". Cytogenetic and Genome Research. 66 (4): 244–245. doi:10.1159/000133703. PMID 8162701.
Kohlschütter, A (2013). "Lysosomal leukodystrophies". Pediatric Neurology Part III. Handbook of Clinical Neurology. Vol. 113. pp. 1611–18. doi:10.1016/B978-0-444-59565-2.00029-0. ISBN 9780444595652. PMID 23622382.
Orsini, Joseph J.; Kay, Denise M.; Saavedra-Matiz, Carlos A.; Wenger, David A.; Duffner, Patricia K.; Erbe, Richard W.; Biski, Chad; Martin, Monica; Krein, Lea M.; Nichols, Matthew; Kurtzberg, Joanne (2016-03-01). "Newborn screening for Krabbe disease in New York State: the first eight years' experience". Genetics in Medicine. 18 (3): 239–248. doi:10.1038/gim.2015.211. ISSN 1530-0366. PMID 26795590.
Escolar, ML; Kiely, BT; Shawgo, E; Hong, X; Gelb, MH; Orsini, JJ; Matern, D; Poe, MD (July 2017). "Psychosine, a marker of Krabbe phenotype and treatment effect". Molecular Genetics and Metabolism. 121 (3): 271–278. doi:10.1016/j.ymgme.2017.05.015. ISSN 1096-7192. PMC 5548593. PMID 28579020.
Shah, Samir S.; Ebberson, Jessica; Kestenbaum, Lori A.; Hodinka, Richard L.; Zorc, Joseph J. (January 2011). "Age-Specific Reference Values for Cerebrospinal Fluid Protein Concentration in Neonates and Young Infants". Journal of Hospital Medicine. 6 (1): 22–27. doi:10.1002/jhm.711. ISSN 1553-5592. PMC 2978786. PMID 20629018.
Duffner, Patricia K.; Caggana, Michele; Orsini, Joseph J.; Wenger, David A.; Patterson, Marc C.; Crosley, Carl J.; Kurtzberg, Joanne; Arnold, Georgianne L.; Escolar, Maria L. (2009-04-01). "Newborn Screening for Krabbe Disease: the New York State Model". Pediatric Neurology. 40 (4): 245–252. doi:10.1016/j.pediatrneurol.2008.11.010. PMID 19302934.
Wright, Matthew D.; Poe, Michele D.; DeRenzo, Anthony; Haldal, Shilpa; Escolar, Maria L. (2017-09-26). "Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study". Neurology. 89 (13): 1365–1372. doi:10.1212/WNL.0000000000004418. ISSN 1526-632X. PMC 5649761. PMID 28855403.
Laule, Cornelia; Vavasour, Irene M.; Shahinfard, Elham; Mädler, Burkhard; Zhang, Jing; Li, David K. B.; MacKay, Alex L.; Sirrs, Sandra M. (May 2018). "Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft". Journal of Neuroimaging. 28 (3): 252–255. doi:10.1111/jon.12502. ISSN 1552-6569. PMID 29479774. S2CID 3533589.
Escolar, Maria L.; West, Tara; Dallavecchia, Alessandra; Poe, Michele D.; LaPoint, Kathleen (November 2016). "Clinical management of Krabbe disease". Journal of Neuroscience Research. 94 (11): 1118–1125. doi:10.1002/jnr.23891. ISSN 1097-4547. PMID 27638597. S2CID 34083553.
Amin, Mutaz; Elsayad, Liena; Ahmed, Ammar Eltahir (2017). "Clinical and Genetic Characteristics of Leukodystrophies in Africa". Journal of Neurosciences in Rural Practice. 8 (S 01): S089–S093. doi:10.4103/jnrp.jnrp_511_16. PMC 5602269. PMID 28936078.
Matsuda, Junko; Suzuki, Kunihiko (2007), Barranger, John A.; Cabrera-Salazar, Mario A. (eds.), "Krabbe Disease (Globoid Cell Leukodystrophy)", Lysosomal Storage Disorders, Springer US, pp. 269–283, doi:10.1007/978-0-387-70909-3_18, ISBN 9780387709093
Zayed, Hatem (February 2015). "Krabbe Disease in the Arab World" (PDF). Journal of Pediatric Genetics. 4 (2146–4596): 001–008. doi:10.1055/s-0035-1554981. PMC 4906415. PMID 27617109.
Suzuki, K. (July 1995). "The twitcher mouse: a model for Krabbe disease and for experimental therapies". Brain Pathology (Zurich, Switzerland). 5 (3): 249–258. doi:10.1111/j.1750-3639.1995.tb00601.x. ISSN 1015-6305. PMID 8520724. S2CID 43425895.
Salvadori C, Modenato M, Corlazzoli DS, Arispici M, Cantile C (May 2005). "Clinicopathological features of globoid cell leucodystrophy in cats". J. Comp. Pathol. 132 (4): 350–6. doi:10.1016/j.jcpa.2004.12.001. PMC 7172685. PMID 15893994.
Capucchio MT, Prunotto M, Lotti D, Valazza A, Galloni M, Dore B, Pregel P, Amedeo S, Catalano D, Cornaglia E, Schiffer D (2008). "Krabbe's disease in two West Highland White terriers". Clin. Neuropathol. 27 (5): 295–301. doi:10.5414/npp27295. PMID 18808060.

huntershope.org

"unbs_state - Hunter's Hope Foundation". www.huntershope.org. Archived from the original on 2016-11-14. Retrieved 2016-11-14.

mayoclinic.org

Mayo Clinic Staff (June 2018). "Krabbe Disease". Mayo Clinic.

nih.gov

pubmed.ncbi.nlm.nih.gov

Duffner, Patricia K.; Barczykowski, Amy; Jalal, Kabir; Yan, Li; Kay, Denise M.; Carter, Randy L. (September 2011). "Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry". Pediatric Neurology. 45 (3): 141–148. doi:10.1016/j.pediatrneurol.2011.05.007. PMID 21824559.
Li, Y; Sands, MS (November 2014). "Experimental therapies in the murine model of globoid cell leukodystrophy". Pediatric Neurology (Review). 51 (5): 600–6. doi:10.1016/j.pediatrneurol.2014.08.003. PMC 4252788. PMID 25240259.
Orsini, Joseph J.; Escolar, Maria L.; Wasserstein, Melissa P.; Caggana, Michele (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Krabbe Disease", GeneReviews®, University of Washington, Seattle, PMID 20301416, retrieved 2019-11-25
Hussain, S. A.; Zimmerman, H. H.; Abdul-Rahman, O. A.; Hussaini, S. M.; Parker, C. C.; Khan, M. (May 2011). "Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective". Journal of Child Neurology. 26 (5): 642–644. doi:10.1177/0883073810387929. PMID 21285037. S2CID 22242663.
Cannizzaro, L.A. (1994). "Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization". Cytogenetic and Genome Research. 66 (4): 244–245. doi:10.1159/000133703. PMID 8162701.
Kohlschütter, A (2013). "Lysosomal leukodystrophies". Pediatric Neurology Part III. Handbook of Clinical Neurology. Vol. 113. pp. 1611–18. doi:10.1016/B978-0-444-59565-2.00029-0. ISBN 9780444595652. PMID 23622382.
Orsini, Joseph J.; Kay, Denise M.; Saavedra-Matiz, Carlos A.; Wenger, David A.; Duffner, Patricia K.; Erbe, Richard W.; Biski, Chad; Martin, Monica; Krein, Lea M.; Nichols, Matthew; Kurtzberg, Joanne (2016-03-01). "Newborn screening for Krabbe disease in New York State: the first eight years' experience". Genetics in Medicine. 18 (3): 239–248. doi:10.1038/gim.2015.211. ISSN 1530-0366. PMID 26795590.
Escolar, ML; Kiely, BT; Shawgo, E; Hong, X; Gelb, MH; Orsini, JJ; Matern, D; Poe, MD (July 2017). "Psychosine, a marker of Krabbe phenotype and treatment effect". Molecular Genetics and Metabolism. 121 (3): 271–278. doi:10.1016/j.ymgme.2017.05.015. ISSN 1096-7192. PMC 5548593. PMID 28579020.
Shah, Samir S.; Ebberson, Jessica; Kestenbaum, Lori A.; Hodinka, Richard L.; Zorc, Joseph J. (January 2011). "Age-Specific Reference Values for Cerebrospinal Fluid Protein Concentration in Neonates and Young Infants". Journal of Hospital Medicine. 6 (1): 22–27. doi:10.1002/jhm.711. ISSN 1553-5592. PMC 2978786. PMID 20629018.
Duffner, Patricia K.; Caggana, Michele; Orsini, Joseph J.; Wenger, David A.; Patterson, Marc C.; Crosley, Carl J.; Kurtzberg, Joanne; Arnold, Georgianne L.; Escolar, Maria L. (2009-04-01). "Newborn Screening for Krabbe Disease: the New York State Model". Pediatric Neurology. 40 (4): 245–252. doi:10.1016/j.pediatrneurol.2008.11.010. PMID 19302934.
Wright, Matthew D.; Poe, Michele D.; DeRenzo, Anthony; Haldal, Shilpa; Escolar, Maria L. (2017-09-26). "Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study". Neurology. 89 (13): 1365–1372. doi:10.1212/WNL.0000000000004418. ISSN 1526-632X. PMC 5649761. PMID 28855403.
Laule, Cornelia; Vavasour, Irene M.; Shahinfard, Elham; Mädler, Burkhard; Zhang, Jing; Li, David K. B.; MacKay, Alex L.; Sirrs, Sandra M. (May 2018). "Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft". Journal of Neuroimaging. 28 (3): 252–255. doi:10.1111/jon.12502. ISSN 1552-6569. PMID 29479774. S2CID 3533589.
Escolar, Maria L.; West, Tara; Dallavecchia, Alessandra; Poe, Michele D.; LaPoint, Kathleen (November 2016). "Clinical management of Krabbe disease". Journal of Neuroscience Research. 94 (11): 1118–1125. doi:10.1002/jnr.23891. ISSN 1097-4547. PMID 27638597. S2CID 34083553.
Amin, Mutaz; Elsayad, Liena; Ahmed, Ammar Eltahir (2017). "Clinical and Genetic Characteristics of Leukodystrophies in Africa". Journal of Neurosciences in Rural Practice. 8 (S 01): S089–S093. doi:10.4103/jnrp.jnrp_511_16. PMC 5602269. PMID 28936078.
Zayed, Hatem (February 2015). "Krabbe Disease in the Arab World" (PDF). Journal of Pediatric Genetics. 4 (2146–4596): 001–008. doi:10.1055/s-0035-1554981. PMC 4906415. PMID 27617109.
Suzuki, K. (July 1995). "The twitcher mouse: a model for Krabbe disease and for experimental therapies". Brain Pathology (Zurich, Switzerland). 5 (3): 249–258. doi:10.1111/j.1750-3639.1995.tb00601.x. ISSN 1015-6305. PMID 8520724. S2CID 43425895.
Salvadori C, Modenato M, Corlazzoli DS, Arispici M, Cantile C (May 2005). "Clinicopathological features of globoid cell leucodystrophy in cats". J. Comp. Pathol. 132 (4): 350–6. doi:10.1016/j.jcpa.2004.12.001. PMC 7172685. PMID 15893994.
Capucchio MT, Prunotto M, Lotti D, Valazza A, Galloni M, Dore B, Pregel P, Amedeo S, Catalano D, Cornaglia E, Schiffer D (2008). "Krabbe's disease in two West Highland White terriers". Clin. Neuropathol. 27 (5): 295–301. doi:10.5414/npp27295. PMID 18808060.

ncbi.nlm.nih.gov

Li, Y; Sands, MS (November 2014). "Experimental therapies in the murine model of globoid cell leukodystrophy". Pediatric Neurology (Review). 51 (5): 600–6. doi:10.1016/j.pediatrneurol.2014.08.003. PMC 4252788. PMID 25240259.
Orsini, Joseph J.; Escolar, Maria L.; Wasserstein, Melissa P.; Caggana, Michele (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Krabbe Disease", GeneReviews®, University of Washington, Seattle, PMID 20301416, retrieved 2019-11-25
Escolar, ML; Kiely, BT; Shawgo, E; Hong, X; Gelb, MH; Orsini, JJ; Matern, D; Poe, MD (July 2017). "Psychosine, a marker of Krabbe phenotype and treatment effect". Molecular Genetics and Metabolism. 121 (3): 271–278. doi:10.1016/j.ymgme.2017.05.015. ISSN 1096-7192. PMC 5548593. PMID 28579020.
Shah, Samir S.; Ebberson, Jessica; Kestenbaum, Lori A.; Hodinka, Richard L.; Zorc, Joseph J. (January 2011). "Age-Specific Reference Values for Cerebrospinal Fluid Protein Concentration in Neonates and Young Infants". Journal of Hospital Medicine. 6 (1): 22–27. doi:10.1002/jhm.711. ISSN 1553-5592. PMC 2978786. PMID 20629018.
Wright, Matthew D.; Poe, Michele D.; DeRenzo, Anthony; Haldal, Shilpa; Escolar, Maria L. (2017-09-26). "Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study". Neurology. 89 (13): 1365–1372. doi:10.1212/WNL.0000000000004418. ISSN 1526-632X. PMC 5649761. PMID 28855403.
Amin, Mutaz; Elsayad, Liena; Ahmed, Ammar Eltahir (2017). "Clinical and Genetic Characteristics of Leukodystrophies in Africa". Journal of Neurosciences in Rural Practice. 8 (S 01): S089–S093. doi:10.4103/jnrp.jnrp_511_16. PMC 5602269. PMID 28936078.
Zayed, Hatem (February 2015). "Krabbe Disease in the Arab World" (PDF). Journal of Pediatric Genetics. 4 (2146–4596): 001–008. doi:10.1055/s-0035-1554981. PMC 4906415. PMID 27617109.
Salvadori C, Modenato M, Corlazzoli DS, Arispici M, Cantile C (May 2005). "Clinicopathological features of globoid cell leucodystrophy in cats". J. Comp. Pathol. 132 (4): 350–6. doi:10.1016/j.jcpa.2004.12.001. PMC 7172685. PMID 15893994.

ghr.nlm.nih.gov

"Krabbe disease". National Institutes of Health.
"Krabbe disease". Genetics Home Reference. United States National Library of Medicine. 2008-05-02. Retrieved 2008-05-07.

nytimes.com

NYtimes.com

onlineathens.com

Miller, Andy (March 18, 2017). "Georgia lawmakers considering bill on testing newborns for rare genetic disorder". Athens Banner-Herald. Athens Banner-Herald. Retrieved 25 March 2017.

semanticscholar.org

api.semanticscholar.org

Hussain, S. A.; Zimmerman, H. H.; Abdul-Rahman, O. A.; Hussaini, S. M.; Parker, C. C.; Khan, M. (May 2011). "Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective". Journal of Child Neurology. 26 (5): 642–644. doi:10.1177/0883073810387929. PMID 21285037. S2CID 22242663.
Laule, Cornelia; Vavasour, Irene M.; Shahinfard, Elham; Mädler, Burkhard; Zhang, Jing; Li, David K. B.; MacKay, Alex L.; Sirrs, Sandra M. (May 2018). "Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft". Journal of Neuroimaging. 28 (3): 252–255. doi:10.1111/jon.12502. ISSN 1552-6569. PMID 29479774. S2CID 3533589.
Escolar, Maria L.; West, Tara; Dallavecchia, Alessandra; Poe, Michele D.; LaPoint, Kathleen (November 2016). "Clinical management of Krabbe disease". Journal of Neuroscience Research. 94 (11): 1118–1125. doi:10.1002/jnr.23891. ISSN 1097-4547. PMID 27638597. S2CID 34083553.
Suzuki, K. (July 1995). "The twitcher mouse: a model for Krabbe disease and for experimental therapies". Brain Pathology (Zurich, Switzerland). 5 (3): 249–258. doi:10.1111/j.1750-3639.1995.tb00601.x. ISSN 1015-6305. PMID 8520724. S2CID 43425895.

thieme-connect.com

Zayed, Hatem (February 2015). "Krabbe Disease in the Arab World" (PDF). Journal of Pediatric Genetics. 4 (2146–4596): 001–008. doi:10.1055/s-0035-1554981. PMC 4906415. PMID 27617109.

uptodate.com

Langan, Thomas J (23 November 2016). "Krabbe disease". UpToDate. Retrieved 18 October 2018.

web.archive.org

"unbs_state - Hunter's Hope Foundation". www.huntershope.org. Archived from the original on 2016-11-14. Retrieved 2016-11-14.
Runevitch, Jennie. "Bryce's Battle: Family gets law change after deadly diagnosis". WTHR. Archived from the original on 2019-12-10. Retrieved 2019-03-25.

whonamedit.com

synd/1457 at Who Named It?

worldcat.org

search.worldcat.org

Orsini, Joseph J.; Kay, Denise M.; Saavedra-Matiz, Carlos A.; Wenger, David A.; Duffner, Patricia K.; Erbe, Richard W.; Biski, Chad; Martin, Monica; Krein, Lea M.; Nichols, Matthew; Kurtzberg, Joanne (2016-03-01). "Newborn screening for Krabbe disease in New York State: the first eight years' experience". Genetics in Medicine. 18 (3): 239–248. doi:10.1038/gim.2015.211. ISSN 1530-0366. PMID 26795590.
Escolar, ML; Kiely, BT; Shawgo, E; Hong, X; Gelb, MH; Orsini, JJ; Matern, D; Poe, MD (July 2017). "Psychosine, a marker of Krabbe phenotype and treatment effect". Molecular Genetics and Metabolism. 121 (3): 271–278. doi:10.1016/j.ymgme.2017.05.015. ISSN 1096-7192. PMC 5548593. PMID 28579020.
Shah, Samir S.; Ebberson, Jessica; Kestenbaum, Lori A.; Hodinka, Richard L.; Zorc, Joseph J. (January 2011). "Age-Specific Reference Values for Cerebrospinal Fluid Protein Concentration in Neonates and Young Infants". Journal of Hospital Medicine. 6 (1): 22–27. doi:10.1002/jhm.711. ISSN 1553-5592. PMC 2978786. PMID 20629018.
Wright, Matthew D.; Poe, Michele D.; DeRenzo, Anthony; Haldal, Shilpa; Escolar, Maria L. (2017-09-26). "Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study". Neurology. 89 (13): 1365–1372. doi:10.1212/WNL.0000000000004418. ISSN 1526-632X. PMC 5649761. PMID 28855403.
Laule, Cornelia; Vavasour, Irene M.; Shahinfard, Elham; Mädler, Burkhard; Zhang, Jing; Li, David K. B.; MacKay, Alex L.; Sirrs, Sandra M. (May 2018). "Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft". Journal of Neuroimaging. 28 (3): 252–255. doi:10.1111/jon.12502. ISSN 1552-6569. PMID 29479774. S2CID 3533589.
Escolar, Maria L.; West, Tara; Dallavecchia, Alessandra; Poe, Michele D.; LaPoint, Kathleen (November 2016). "Clinical management of Krabbe disease". Journal of Neuroscience Research. 94 (11): 1118–1125. doi:10.1002/jnr.23891. ISSN 1097-4547. PMID 27638597. S2CID 34083553.
Suzuki, K. (July 1995). "The twitcher mouse: a model for Krabbe disease and for experimental therapies". Brain Pathology (Zurich, Switzerland). 5 (3): 249–258. doi:10.1111/j.1750-3639.1995.tb00601.x. ISSN 1015-6305. PMID 8520724. S2CID 43425895.

wthr.com

Runevitch, Jennie. "Bryce's Battle: Family gets law change after deadly diagnosis". WTHR. Archived from the original on 2019-12-10. Retrieved 2019-03-25.