TY - JOUR AU - Vanier, M. T. PY - 2015 DA - 2015// TI - Complex lipid trafficking in Niemann-pick disease type C JO - J Inherit Metab Dis VL - 38 UR - https://doi.org/10.1007/s10545-014-9794-4 DO - 10.1007/s10545-014-9794-4 ID - Vanier2015 ER - TY - JOUR AU - Vanier, M. T. PY - 2010 DA - 2010// TI - Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 5 UR - https://doi.org/10.1186/1750-1172-5-16 DO - 10.1186/1750-1172-5-16 ID - Vanier2010 ER - TY - JOUR AU - Geberhiwot, T. AU - Moro, A. AU - Dardis, A. AU - Ramaswami, U. AU - Sirrs, S. AU - Marfa, M. P. PY - 2018 DA - 2018// TI - Consensus clinical management guidelines for Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 13 UR - https://doi.org/10.1186/s13023-018-0785-7 DO - 10.1186/s13023-018-0785-7 ID - Geberhiwot2018 ER - TY - JOUR AU - Garver, W. S. AU - Francis, G. A. AU - Jelinek, D. AU - Shepherd, G. AU - Flynn, J. AU - Castro, G. PY - 2007 DA - 2007// TI - The national Niemann-pick C1 disease database: report of clinical features and health problems JO - Am J Med Genet A VL - 143A UR - https://doi.org/10.1002/ajmg.a.31735 DO - 10.1002/ajmg.a.31735 ID - Garver2007 ER - TY - JOUR AU - Patterson, M. C. AU - Hendriksz, C. J. AU - Walterfang, M. AU - Sedel, F. AU - Vanier, M. T. AU - Wijburg, F. PY - 2012 DA - 2012// TI - Recommendations for the diagnosis and management of Niemann-pick disease type C: an update JO - Mol Genet Metab VL - 106 UR - https://doi.org/10.1016/j.ymgme.2012.03.012 DO - 10.1016/j.ymgme.2012.03.012 ID - Patterson2012 ER - TY - JOUR AU - Imrie, J. AU - Heptinstall, L. AU - Knight, S. AU - Strong, K. PY - 2015 DA - 2015// TI - Observational cohort study of the natural history of Niemann-pick disease type C in the UK: a 5-year update from the UK clinical database JO - BMC Neurol VL - 15 UR - https://doi.org/10.1186/s12883-015-0511-1 DO - 10.1186/s12883-015-0511-1 ID - Imrie2015 ER - TY - JOUR AU - Kelly, D. A. AU - Portmann, B. AU - Mowat, A. P. AU - Sherlock, S. AU - Lake, B. D. PY - 1993 DA - 1993// TI - Niemann-pick disease type C: diagnosis and outcome in children, with particular reference to liver disease JO - J Pediatr VL - 123 UR - https://doi.org/10.1016/S0022-3476(05)81695-6 DO - 10.1016/S0022-3476(05)81695-6 ID - Kelly1993 ER - TY - JOUR AU - Iturriaga, C. AU - Pineda, M. AU - Fernandez-Valero, E. M. AU - Vanier, M. T. AU - Coll, M. J. PY - 2006 DA - 2006// TI - Niemann-pick C disease in Spain: clinical spectrum and development of a disability scale JO - J Neurol Sci VL - 249 UR - https://doi.org/10.1016/j.jns.2006.05.054 DO - 10.1016/j.jns.2006.05.054 ID - Iturriaga2006 ER - TY - JOUR AU - Vanier, M. T. AU - Wenger, D. A. AU - Comly, M. E. AU - Rousson, R. AU - Brady, R. O. AU - Pentchev, P. G. PY - 1988 DA - 1988// TI - Niemann-pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients JO - Clin Genet VL - 33 UR - https://doi.org/10.1111/j.1399-0004.1988.tb03460.x DO - 10.1111/j.1399-0004.1988.tb03460.x ID - Vanier1988 ER - TY - JOUR AU - Patterson, M. C. AU - Mengel, E. AU - Wijburg, F. A. AU - Muller, A. AU - Schwierin, B. AU - Drevon, H. PY - 2013 DA - 2013// TI - Disease and patient characteristics in NP-C patients: findings from an international disease registry JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-12 DO - 10.1186/1750-1172-8-12 ID - Patterson2013 ER - TY - JOUR AU - Jahnova, H. AU - Dvorakova, L. AU - Vlaskova, H. AU - Hulkova, H. AU - Poupetova, H. AU - Hrebicek, M. PY - 2014 DA - 2014// TI - Observational, retrospective study of a large cohort of patients with Niemann-pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years JO - Orphanet J Rare Dis. VL - 9 UR - https://doi.org/10.1186/s13023-014-0140-6 DO - 10.1186/s13023-014-0140-6 ID - Jahnova2014 ER - TY - JOUR AU - Wraith, J. E. AU - Guffon, N. AU - Rohrbach, M. AU - Hwu, W. L. AU - Korenke, G. C. AU - Bembi, B. PY - 2009 DA - 2009// TI - Natural history of Niemann-pick disease type C in a multicentre observational retrospective cohort study JO - Mol Genet Metab VL - 98 UR - https://doi.org/10.1016/j.ymgme.2009.06.009 DO - 10.1016/j.ymgme.2009.06.009 ID - Wraith2009 ER - TY - JOUR AU - Vanier, M. T. AU - Millat, G. PY - 2003 DA - 2003// TI - Niemann-pick disease type C JO - Clin Genet VL - 64 UR - https://doi.org/10.1034/j.1399-0004.2003.00147.x DO - 10.1034/j.1399-0004.2003.00147.x ID - Vanier2003 ER - TY - JOUR AU - Vanier, M. T. AU - Rodriguez-Lafrasse, C. AU - Rousson, R. AU - Duthel, S. AU - Harzer, K. AU - Pentchev, P. G. PY - 1991 DA - 1991// TI - Type C Niemann-pick disease: biochemical aspects and phenotypic heterogeneity JO - Dev Neurosci VL - 13 UR - https://doi.org/10.1159/000112178 DO - 10.1159/000112178 ID - Vanier1991 ER - TY - JOUR AU - Dvorakova, L. AU - Sikora, J. AU - Hrebicek, M. AU - Hulkova, H. AU - Bouckova, M. AU - Stolnaja, L. PY - 2006 DA - 2006// TI - Subclinical course of adult visceral Niemann-pick type C1 disease. A rare or underdiagnosed disorder? JO - J Inherit Metab Dis VL - 29 UR - https://doi.org/10.1007/s10545-006-0330-z DO - 10.1007/s10545-006-0330-z ID - Dvorakova2006 ER - TY - JOUR AU - Wassif, C. A. AU - Cross, J. L. AU - Iben, J. AU - Sanchez-Pulido, L. AU - Cougnoux, A. AU - Platt, F. M. PY - 2016 DA - 2016// TI - High incidence of unrecognized visceral/neurological late-onset Niemann-pick disease, type C1, predicted by analysis of massively parallel sequencing data sets JO - Genet Med VL - 18 UR - https://doi.org/10.1038/gim.2015.25 DO - 10.1038/gim.2015.25 ID - Wassif2016 ER - TY - JOUR AU - Longstreth, W. T. AU - Daven, J. R. AU - Farrell, D. F. AU - Bolen, J. W. AU - Bird, T. D. PY - 1982 DA - 1982// TI - Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease JO - Neurology VL - 32 UR - https://doi.org/10.1212/WNL.32.11.1295 DO - 10.1212/WNL.32.11.1295 ID - Longstreth1982 ER - TY - JOUR AU - Elleder, M. AU - Jirasek, A. AU - Vlk, J. PY - 1983 DA - 1983// TI - Adult neurovisceral lipidosis compatible with Niemann-pick disease type C JO - Virchows Arch A Pathol Anat Histopathol VL - 401 UR - https://doi.org/10.1007/BF00644787 DO - 10.1007/BF00644787 ID - Elleder1983 ER - TY - JOUR AU - Shulman, L. M. AU - David, N. J. AU - Weiner, W. J. PY - 1995 DA - 1995// TI - Psychosis as the initial manifestation of adult-onset Niemann-pick disease type C JO - Neurology VL - 45 UR - https://doi.org/10.1212/WNL.45.9.1739 DO - 10.1212/WNL.45.9.1739 ID - Shulman1995 ER - TY - JOUR AU - Walterfang, M. AU - Fietz, M. AU - Fahey, M. AU - Sullivan, D. AU - Leane, P. AU - Lubman, D. I. PY - 2006 DA - 2006// TI - The neuropsychiatry of Niemann-pick type C disease in adulthood JO - J Neuropsychiatry Clin Neurosci VL - 18 UR - https://doi.org/10.1176/jnp.2006.18.2.158 DO - 10.1176/jnp.2006.18.2.158 ID - Walterfang2006 ER - TY - JOUR AU - Sévin, M. AU - Lesca, G. AU - Baumann, N. AU - Millat, G. AU - Lyon-Caen, O. AU - Vanier, M. T. PY - 2007 DA - 2007// TI - The adult form of Niemann-pick disease type C JO - Brain VL - 130 UR - https://doi.org/10.1093/brain/awl260 DO - 10.1093/brain/awl260 ID - Sévin2007 ER - TY - CHAP AU - Nadjar, Y. AU - Vanier, M. T. ED - Burlina, A. P. PY - 2018 DA - 2018// TI - Niemann-pick disease type C BT - Neurometabolic hereditary diseases: diagnosis and treatment. Springer UR - https://doi.org/10.1007/978-3-319-76148-0_6 DO - 10.1007/978-3-319-76148-0_6 ID - Nadjar2018 ER - TY - JOUR AU - Wijburg, F. A. AU - Sedel, F. AU - Pineda, M. AU - Hendriksz, C. J. AU - Fahey, M. AU - Walterfang, M. PY - 2012 DA - 2012// TI - Development of a suspicion index to aid diagnosis of Niemann-pick disease type C JO - Neurology VL - 78 UR - https://doi.org/10.1212/WNL.0b013e3182563b82 DO - 10.1212/WNL.0b013e3182563b82 ID - Wijburg2012 ER - TY - JOUR AU - Vanier, M. T. AU - Latour, P. PY - 2015 DA - 2015// TI - Laboratory diagnosis of Niemann-pick disease type C: the filipin staining test JO - Methods Cell Biol VL - 126 UR - https://doi.org/10.1016/bs.mcb.2014.10.028 DO - 10.1016/bs.mcb.2014.10.028 ID - Vanier2015 ER - TY - JOUR AU - Vanier, M. T. AU - Gissen, P. AU - Bauer, P. AU - Coll, M. J. AU - Burlina, A. AU - Hendriksz, C. J. PY - 2016 DA - 2016// TI - Diagnostic tests for Niemann-pick disease type C (NP-C): a critical review JO - Mol Genet Metab VL - 118 UR - https://doi.org/10.1016/j.ymgme.2016.06.004 DO - 10.1016/j.ymgme.2016.06.004 ID - Vanier2016 ER - TY - JOUR AU - Patterson, M. C. AU - Clayton, P. AU - Gissen, P. AU - Anheim, M. AU - Bauer, P. AU - Bonnot, O. PY - 2017 DA - 2017// TI - Recommendations for the detection and diagnosis of Niemann-pick disease type C: an update JO - Neurol Clin Pract VL - 7 UR - https://doi.org/10.1212/CPJ.0000000000000399 DO - 10.1212/CPJ.0000000000000399 ID - Patterson2017 ER - TY - JOUR AU - Stein, V. M. AU - Crooks, A. AU - Ding, W. AU - Prociuk, M. AU - O'Donnell, P. AU - Bryan, C. PY - 2012 DA - 2012// TI - Miglustat improves Purkinje cell survival and alters microglial phenotype in feline Niemann-pick disease type C JO - J Neuropathol Exp Neurol VL - 71 UR - https://doi.org/10.1097/NEN.0b013e31825414a6 DO - 10.1097/NEN.0b013e31825414a6 ID - Stein2012 ER - TY - JOUR AU - Wraith, J. E. AU - Vecchio, D. AU - Jacklin, E. AU - Abel, L. AU - Chadha-Boreham, H. AU - Luzy, C. PY - 2010 DA - 2010// TI - Miglustat in adult and juvenile patients with Niemann-pick disease type C: long-term data from a clinical trial JO - Mol Genet Metab VL - 99 UR - https://doi.org/10.1016/j.ymgme.2009.12.006 DO - 10.1016/j.ymgme.2009.12.006 ID - Wraith2010 ER - TY - JOUR AU - Pineda, M. AU - Wraith, J. E. AU - Mengel, E. AU - Sedel, F. AU - Hwu, W. L. AU - Rohrbach, M. PY - 2009 DA - 2009// TI - Miglustat in patients with Niemann-pick disease type C (NP-C): a multicenter observational retrospective cohort study JO - Mol Genet Metab VL - 98 UR - https://doi.org/10.1016/j.ymgme.2009.07.003 DO - 10.1016/j.ymgme.2009.07.003 ID - Pineda2009 ER - TY - JOUR AU - Patterson, M. C. AU - Vecchio, D. AU - Prady, H. AU - Abel, L. AU - Wraith, J. E. PY - 2007 DA - 2007// TI - Miglustat for treatment of Niemann-pick C disease: a randomised controlled study JO - Lancet Neurol VL - 6 UR - https://doi.org/10.1016/S1474-4422(07)70194-1 DO - 10.1016/S1474-4422(07)70194-1 ID - Patterson2007 ER - TY - STD TI - Actelion. Miglustat (Zavesca) Summary of Product Characteristics, EMA. (EudraPharm). 2010. http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/000435/human_med_001171.jsp&murl=menus/medicines/medicines.jsp&mid=WC0b01ac058001d125. Accessed 31 Aug 2018. UR - http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/000435/human_med_001171.jsp&murl=menus/medicines/medicines.jsp&mid=WC0b01ac058001d125 ID - ref31 ER - TY - JOUR AU - Lyseng-Williamson, K. A. PY - 2014 DA - 2014// TI - Miglustat: a review of its use in Niemann-pick disease type C JO - Drugs VL - 74 UR - https://doi.org/10.1007/s40265-013-0164-6 DO - 10.1007/s40265-013-0164-6 ID - Lyseng-Williamson2014 ER - TY - JOUR AU - Sedel, F. AU - Chabrol, B. AU - Audoin, B. AU - Kaphan, E. AU - Tranchant, C. AU - Burzykowski, T. PY - 2016 DA - 2016// TI - Normalisation of brain spectroscopy findings in Niemann-pick disease type C patients treated with miglustat JO - J Neurol VL - 263 UR - https://doi.org/10.1007/s00415-016-8051-1 DO - 10.1007/s00415-016-8051-1 ID - Sedel2016 ER - TY - JOUR AU - Abel, L. A. AU - Walterfang, M. AU - Stainer, M. J. AU - Bowman, E. A. AU - Velakoulis, D. PY - 2015 DA - 2015// TI - Longitudinal assessment of reflexive and volitional saccades in Niemann-pick type C disease during treatment with miglustat JO - Orphanet J Rare Dis. VL - 10 UR - https://doi.org/10.1186/s13023-015-0377-8 DO - 10.1186/s13023-015-0377-8 ID - Abel2015 ER - TY - JOUR AU - Patterson, M. C. AU - Mengel, E. AU - Vanier, M. T. AU - Schwierin, B. AU - Muller, A. AU - Cornelisse, P. PY - 2015 DA - 2015// TI - Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-pick disease type C: an observational cohort study JO - Orphanet J Rare Dis. VL - 10 UR - https://doi.org/10.1186/s13023-015-0284-z DO - 10.1186/s13023-015-0284-z ID - Patterson2015 ER - TY - JOUR AU - Fecarotta, S. AU - Romano, A. AU - Della Casa, R. AU - Del Giudice, E. AU - Bruschini, D. AU - Mansi, G. PY - 2015 DA - 2015// TI - Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 10 UR - https://doi.org/10.1186/s13023-015-0240-y DO - 10.1186/s13023-015-0240-y ID - Fecarotta2015 ER - TY - JOUR AU - Héron, B. AU - Valayannopoulos, V. AU - Baruteau, J. AU - Chabrol, B. AU - Ogier, H. AU - Latour, P. PY - 2012 DA - 2012// TI - Miglustat therapy in the French cohort of paediatric patients with Niemann-pick disease type C JO - Orphanet J Rare Dis. VL - 7 UR - https://doi.org/10.1186/1750-1172-7-36 DO - 10.1186/1750-1172-7-36 ID - Héron2012 ER - TY - JOUR AU - Bowman, E. A. AU - Walterfang, M. AU - Abel, L. AU - Desmond, P. AU - Fahey, M. AU - Velakoulis, D. PY - 2015 DA - 2015// TI - Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-pick disease type C patients treated with miglustat JO - J Neurol VL - 262 UR - https://doi.org/10.1007/s00415-015-7819-z DO - 10.1007/s00415-015-7819-z ID - Bowman2015 ER - TY - JOUR AU - Pineda, M. AU - Perez-Poyato, M. S. AU - O'Callaghan, M. AU - Vilaseca, M. A. AU - Pocovi, M. AU - Domingo, R. PY - 2010 DA - 2010// TI - Clinical experience with miglustat therapy in pediatric patients with Niemann-pick disease type C: a case series JO - Molec Genet Metab VL - 99 UR - https://doi.org/10.1016/j.ymgme.2009.11.007 DO - 10.1016/j.ymgme.2009.11.007 ID - Pineda2010 ER - TY - JOUR AU - Abela, L. AU - Plecko, B. AU - Palla, A. AU - Burda, P. AU - Nuoffer, J. M. AU - Ballhausen, D. PY - 2014 DA - 2014// TI - Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-pick type C disease: a retrospective Swiss cohort study JO - Orphanet J Rare Dis. VL - 9 UR - https://doi.org/10.1186/s13023-014-0176-7 DO - 10.1186/s13023-014-0176-7 ID - Abela2014 ER - TY - JOUR AU - Heitz, C. AU - Epelbaum, S. AU - Nadjar, Y. PY - 2017 DA - 2017// TI - Cognitive impairment profile in adult patients with Niemann pick type C disease JO - Orphanet J Rare Dis. VL - 12 UR - https://doi.org/10.1186/s13023-017-0714-1 DO - 10.1186/s13023-017-0714-1 ID - Heitz2017 ER - TY - JOUR AU - Patterson, M. C. AU - Vecchio, D. AU - Jacklin, E. AU - Abel, L. AU - Chadha-Boreham, H. AU - Luzy, C. PY - 2010 DA - 2010// TI - Long-term miglustat therapy in children with Niemann-pick disease type C JO - J Child Neurol VL - 25 UR - https://doi.org/10.1177/0883073809344222 DO - 10.1177/0883073809344222 ID - Patterson2010 ER - TY - STD TI - Bonnot O, Klünemann HH, Velten C, Torres Martin JV, Walterfang M. Systematic review of psychiatric signs in Niemann pick disease type C. World J Biol Psychiatry. 2018:1–37. ID - ref43 ER - TY - JOUR AU - Fink, J. K. AU - Filling-Katz, M. R. AU - Sokol, J. AU - Cogan, D. G. AU - Pikus, A. AU - Sonies, B. PY - 1989 DA - 1989// TI - Clinical spectrum of Niemann-pick disease type C JO - Neurology VL - 39 UR - https://doi.org/10.1212/WNL.39.8.1040 DO - 10.1212/WNL.39.8.1040 ID - Fink1989 ER - TY - JOUR AU - King, K. A. AU - Gordon-Salant, S. AU - Yanjanin, N. AU - Zalewski, C. AU - Houser, A. AU - Porter, F. D. PY - 2014 DA - 2014// TI - Auditory phenotype of Niemann-pick disease, type C1 JO - Ear Hear VL - 35 UR - https://doi.org/10.1097/AUD.0b013e3182a362b8 DO - 10.1097/AUD.0b013e3182a362b8 ID - King2014 ER - TY - JOUR AU - Iodice, R. AU - Dubbioso, R. AU - Topa, A. AU - Ruggiero, L. AU - Pisciotta, C. AU - Esposito, M. PY - 2015 DA - 2015// TI - Electrophysiological characterization of adult-onset Niemann-pick type C disease JO - J Neurol Sci VL - 348 UR - https://doi.org/10.1016/j.jns.2014.12.005 DO - 10.1016/j.jns.2014.12.005 ID - Iodice2015 ER - TY - JOUR AU - King, K. A. AU - Gordon-Salant, S. AU - Pawlowski, K. S. AU - Taylor, A. M. AU - Griffith, A. J. AU - Houser, A. PY - 2014 DA - 2014// TI - Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-pick disease, type C JO - J Assoc Res Otolaryngol VL - 15 UR - https://doi.org/10.1007/s10162-014-0459-7 DO - 10.1007/s10162-014-0459-7 ID - King2014 ER - TY - JOUR AU - Josephs, K. A. AU - Van Gerpen, M. W. AU - Van Gerpen, J. A. PY - 2003 DA - 2003// TI - Adult onset Niemann-pick disease type C presenting with psychosis JO - J Neurol Neurosurg Psychiatry VL - 74 UR - https://doi.org/10.1136/jnnp.74.4.528 DO - 10.1136/jnnp.74.4.528 ID - Josephs2003 ER - TY - JOUR AU - Bonnot, O. AU - Klünemann, H. H. AU - Sedel, F. AU - Tordjman, S. AU - Cohen, D. AU - Walterfang, M. PY - 2014 DA - 2014// TI - Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review JO - Orphanet J Rare Dis. VL - 9 UR - https://doi.org/10.1186/1750-1172-9-65 DO - 10.1186/1750-1172-9-65 ID - Bonnot2014 ER - TY - CHAP AU - Vanier, M. T. AU - Suzuki, K. ED - Moser, H. W. PY - 1996 DA - 1996// TI - Niemann-pick disease BT - Handbook of clinical neurology PB - Elsevier CY - Amsterdam ID - Vanier1996 ER - TY - JOUR AU - Anheim, M. AU - Lagha-Boukbiza, O. AU - Fleury-Lesaunier, M. C. AU - Valenti-Hirsch, M. P. AU - Hirsch, E. AU - Gervais-Bernard, H. PY - 2014 DA - 2014// TI - Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-pick C disease JO - J Neurol VL - 261 UR - https://doi.org/10.1007/s00415-013-7159-9 DO - 10.1007/s00415-013-7159-9 ID - Anheim2014 ER - TY - JOUR AU - Stampfer, M. AU - Theiss, S. AU - Amraoui, Y. AU - Jiang, X. AU - Keller, S. AU - Ory, D. S. PY - 2013 DA - 2013// TI - Niemann-pick disease type C clinical database: cognitive and coordination deficits are early disease indicators JO - Orphanet J Rare Dis. VL - 8 UR - https://doi.org/10.1186/1750-1172-8-35 DO - 10.1186/1750-1172-8-35 ID - Stampfer2013 ER - TY - JOUR AU - Tozza, S. AU - Dubbioso, R. AU - Iodice, R. AU - Topa, A. AU - Esposito, M. AU - Ruggiero, L. PY - 2018 DA - 2018// TI - Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-pick disease type C: a case report JO - Neurol Sci VL - 39 UR - https://doi.org/10.1007/s10072-018-3314-5 DO - 10.1007/s10072-018-3314-5 ID - Tozza2018 ER - TY - JOUR AU - Walterfang, M. AU - Chien, Y. H. AU - Imrie, J. AU - Rushton, D. AU - Schubiger, D. AU - Patterson, M. C. PY - 2012 DA - 2012// TI - Dysphagia as a risk factor for mortality in Niemann-pick disease type C: systematic literature review and evidence from studies with miglustat JO - Orphanet J Rare Dis. VL - 7 UR - https://doi.org/10.1186/1750-1172-7-76 DO - 10.1186/1750-1172-7-76 ID - Walterfang2012 ER -