常见的遗传性溶酶体贮积病

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Mehta A, Winchester B, eds. Lysosomal storage disorders. A practical guide. Oxford: Wiley-Blackwell; 2012.

Peters C, Steward CG, National Marrow Donor Program, et al. Hematopoietic cell transplantation for inherited metabolic disorders: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003 Feb;31(4):229-39.

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Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis. 2009 Oct;32(5):660-4.

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Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul;106(3):330-44.

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Grabowski GA. Treatment perspectives for lysosomal storage diseases. Expert Opin Emerg Drugs. 2008 Mar;13(1):197-211.

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11.  Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403.

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22.  Hollak CE, van Weely S, van Oers MH, et al. Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J Clin Invest. 1994 Mar;93(3):1288-92.

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23.  Brinkman J, Wijburg FA, Hollak CE, et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann Pick disease. J Inherit Metab Dis. 2005;28(1):13-20.

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24.  Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7.

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25.  Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008 Nov;14(11):1247-55.

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26.  Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006 Aug;88(4):307-14.

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27.  Wilcox WR, Oliveira JP, Hopkin RJ, et al. Fabry Registrar. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registrar. Mol Genet Metab. 2008 Feb;93(2):112-28.

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28.  Beutler E. Carrier screening for Gaucher disease: more harm than good? JAMA. 2007 Sep 19;298(11):1329-31.

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29.  Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA. 2007 Sep 19;298(11):1281-90.

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30.  Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.

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31.  Zarate AY, Hopkin RJ. Fabry's disease. Lancet. 2008 Oct 18;372(9647):1427-35.

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32.  MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001 Nov;38(11):769-75.

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33.  Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42.

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34.  Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52.

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35.  Weidemann F, Niemann M, Sommer C, et al. Interdisciplinary approach towards female patients with Fabry disease. Eur J Clin Invest. 2012 Apr;42(4):455-62.

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36.  Muenzer J, Wraith JE, Clarke LA, et al. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009 Jan;123(1):19-29.

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37.  Muenzer J. The mucopolysaccharidoses: a heterogenous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 suppl):S27-34.

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38.  van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646):1342-53.

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39.  Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148(5):671-6.

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40.  Kishnani PS, Steiner RD, Bali D, et al; ACMG Work Group on Management of Pompe Disease. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88.

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41.  Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestations and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005 Mar;128(Pt 3):671-7.

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42.  Jack RM, Gordon C, Scott CR, et al. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006 May;8(5):307-12.

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43.  Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May;106(1):73-82.

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44.  Byers S, Rozaklis T, Brumfield LK, et al. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab. 1998 Dec;65(4):282-90.

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45.  An Y, Young SP, Kishnani PS, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab. 2005 Aug;85(4):247-54.

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46.  Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type 1 Gaucher disease. Haematologica. 2008 Aug;93(8):1211-8.

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47.  Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med. 1994 Jul;97(1):3-13.

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48.  Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 2004 Apr;65(4):299-307.

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49.  Escolar ML, Poe MD, Martin HR, et al. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006 Sep;118(3):e879-89.

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50.  Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012 Jan 28;379(9813):335-41.

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51.  Linthorst GE. Screening for Fabry disease in high-risk populations: A systematic review. J Med Genetics. 2010 Apr;47(4):217-22.

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52.  Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23;324(21):1464-70.

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53.  Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002 Aug 1;113(2):112-9.

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54.  Gabrowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher disease: phenotypic and genetic variation. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular basis of inherited disease. 9th ed. New York, NY: McGraw-Hill; 2006.

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56.  Morris JL. Velaglucerase alfa for the management of type 1 Gaucher disease. Clin Ther. 2012 Feb;34(2):259-71.

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57.  Ben Turkia H, Gonzalez DE, Barton NW, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013 Mar;88(3):179-84.

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58.  Hughes DA, Gonzalez DE, Lukina EA, et al. Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: long-term data from phase III clinical trials. Am J Hematol. 2015 Jul;90(7):584-91.

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59.  Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17;313(7):695-706.

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60.  Cox TM, Aerts JM, Andria G, et al. The role of the iminosugar N-butyldeoxynorjirimycin (miglustat) in the management of type 1 (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis. 2003;26(6):513-26.

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61.  Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000 Apr 29;355(9214):1481-5.

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62.  Pastores GM, Giraldo P, Cherin P, et al. Goal-oriented therapy with miglustat in Gaucher disease. Curr Med Res Opin. 2009 Jan;25(1):23-37.

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63.  Poole RM. Eliglustat: first global approval. Drugs. 2014 Oct;74(15):1829-36.

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64.  Peters C, Steward CG, National Marrow Donor Program, et al. Hematopoietic cell transplantation for inherited metabolic disorders: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003 Feb;31(4):229-39.

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65.  Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis. 2001 Jun;24(3):319-27.

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66.  Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis. 2009 Oct;32(5):660-4.

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67.  Jain G, Warnock DG. Blood pressure, proteinuria and nephropathy in Fabry disease. Nephron Clin Pract. 2011;118(1):43-8.

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68.  Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage diseases. Heart. 2007 Apr;93(4):528-35.

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69.  Hoffmann B, Schwarz M, Mehta A, et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007 Dec;5(12):1447-53.

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70.  Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001 Jul 5;345(1):9-16.

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71.  Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001 Jun 6;285(21):2743-9.

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72.  Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008 Feb;94(2):153-8.

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73.  Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77-86.

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74.  Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004Dec;34(12):838-44.

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75.  Mehta A, Beck M, Elliott P, et al; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet. 2009 Dec 12;374(9706):1986-96.

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76.  Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis. 2006 Apr;13(2):138-47.

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77.  Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006 Sep;8(9):539-48.

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78.  Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18;138(4):338-46.

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79.  El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2016 Jul 25;(7):CD006663.

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80.  Schaefer RM, Tylki-Szymanska A, Hilz MJ, et al. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs. 2009 Nov 12;69(16):2179-205.

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81.  Lidove O, Joly D, Barbey F, et al. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract. 2007 Feb;61(2):293-302.

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84.  Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55.

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85.  National Institute for Health and Care Excellence. Migalastat for treating Fabry disease. February 2017 [internet publication].

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88.  Shinhar SY, Zablocki RN, Madgy DN. Airway management in mucopolysaccharide disorders. Arch Otolaryngol. 2004 Feb;130(2):233-7.

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103.  Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 2007 Mar;121(1):1-22.

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104.  Grabowski GA. Treatment perspectives for lysosomal storage diseases. Expert Opin Emerg Drugs. 2008 Mar;13(1):197-211.

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105.  Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19;352(20):2069-81.

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