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746 Part VI Non-Malignant Leukocytes

5. Kornfeld R, Kornfeld S: Assembly of asparagine-linked oligosaccharides. 22. Dolgin E: Jewish genetic screening grows despite questions about
Annu Rev Biochem 54:631, 1985. breadth. Nat Med 17:639, 2011.
6. Reitman ML, Varki A, Kornfeld S: Fibroblasts from patients 23. Bell CJ, Dinwiddie DL, Miller NA, et al: Carrier testing for severe
with I-cell disease and pseudo-Hurler polydystrophy are defi- childhood recessive diseases by next-generation sequencing. Sci Transl
cient in uridine 5′-diphosphate-N-acetylglucsamin: Glycoprotein Med 3:65ra4, 2011.
N-acetylglucosaminylphosphotransferase activity. J Clin Invest 67:1574, 24. Brady RO: Enzyme replacement for lysosomal diseases. Annu Rev Med
1981. 57:283, 2006.
7. Bonifacino JS, Traub LM: Signals for sorting of transmembrane proteins 25. Sly WS, Fischer HD, Gonzalez-Moriega A, et al: Role of the
to endosomes and lysosomes. Annu Rev Biochem 72:395, 2003. 6-phosphomannosyl-enzyme receptor in intracellular transport and
8. Schulze H, Sandhoff K: Lysosomal lipid storage diseases. Cold Spring adsorptive pinocytosis of lysosomal enzymes. Methods Cell Biol 23:191,
Harb Perspect Biol 1:3, 2011. 1981.
9. Giugliani R, Federhen A, Rojas MV, et al: Mucopolysaccharidosis I, II 26. Prasad VK, Kurtzberg J: Cord blood and bone marrow transplantation
and VI: Brief review and guidelines for treatment. Genet Mol Biol 33:589, in inherited metabolic diseases: scientific basis, current status and future
2010. directions. Br J Haematol 148:356, 2010.
10. Mallat C, Konig JL, Naheedy J: Skeletal and brain abnormalities in 27. Krivit W, Sung JH, Shaprio EG, et al: Microglia: the effector cell for
fucosidosis, a rare lysosomal storage disorder. J Radiol Case Rep 9:30, reconstitution of the central nervous system following bone marrow
2015. transplantation for lysosomal and peroxisomal storage diseases. Cell
11. Hannun YA, Bell RM: Functions of sphingolipids and sphingolipid Transplant 4:385, 1995.
breakdown products in cellular regulation. Science 243:500, 1989. 28. Ayto RM, Hughs DA, Jeevaratnam P, et al: Long-term outcomes of liver
12. Patterson MC, Mengel E, Vanier MT, et al: Stable or improved transplantation in type 1 Gaucher disease. Am J Transplant 10:1934,
neurological manifestations during miglustat therapy in patients from 2010.
the international disease registry for Niemann-Pick disease type C: an 29. Neufeld EF: The uptake of enzyme into lysosomes: an overview. Birth
observational cohort study. Orphanet J Rare Dis 10:65, 2015. Defects Orig Artic Ser 16:77, 1980.
13. Walkley SU, Vanier MT: Secondary lipid accumulation in lysosomal 30. Johnson WG, Desnick RJ, Long DM, et al: Intravenous injection of
disease. Biochim Biophys Acta 1793:726, 2009. purified hexosaminidase A into a patient with Tay-Sachs disease. Birth
14. Simonaro CM, Ge Y, Eliyahu E, et al: Involvement of the Toll-like Defects Orig Artic Ser 9:120, 1973.
receptor 4 pathway and the use of TNF-alpha antagonists for treat- 31. Barton NW, Furbish FS, Murray GJ, et al: Therapeutic response to
ment of the mucopolysaccharidoses. Proc Natl Acad Sci USA 107:222, intravenous infusions of glucocerebrosidase in a patient with Gaucher
2010. disease. Proc Natl Acad Sci USA 87:1913, 1990.
15. Schuchman EH, Ge Y, Lai A, et al: Pentosan polysulfate: a novel therapy 32. Haskins ME: Animal models for mucopolysaccharidosis disorders and
for the mucopolysaccharidoses. PLoS ONE 8:e54459, 2013. their clinical relevance. Acta Paediatr 96:56, 2007.
16. Frohberg M, Ge Y, Meng F, et al: Dose responsive effects of subcutaneous 33. Seregin SS, Amalfitano A: Gene therapy for lysosomal storage disorders:
pentosan polysulfate injection in mucopolysaccharidosis type VI rats and Progress, challenges and future prospects. Curr Pharm Des 17:2558,
comparison to oral treatment. PLoS ONE 9:e100882, 2014. 2011.
17. Settembre C, Di Malta C, Polito VA, et al: TFEB links autophagy to 34. Sharma P, Kar R, Dutta S, et al: Niemann-Pick disease, type B with
lysosomal biogenesis. Science 332:1429, 2011. TRAP-positive storage cells and secondary sea blue histiocytosis. Eur J
18. Germain DP: General aspects of X-linked disease. In Mehta A, Beck M, Histochem 23:183, 2009.
Sunder-Plassman G, editors: Fabry Disease: Perspectives from 5 years of 35. Sibille A, Eng CM, Kim SJ, et al: Phenotype/genotype correlations in
FOS, Oxford, 2006, Oxford ParmaGenesis, Chapter 7. Gaucher disease type I: clinical and therapeutic implications. Am J Hum
19. Simonaro CM, Park JH, Eliyahu E, et al: Imprinting at the SMPD1 Genet 52:1094, 1993.
locus: Implications for acid sphingomyelinase-deficient Niemann-Pick 36. Gillis S, Hyam E, Abrahamov A, et al: Platelet function abnormalities in
disease. Am J Hum Genet 78:865, 2006. Gaucher disease patients. Am J Hematol 61:103, 1999.
20. Lee CY, Krimbou L, Vincent J, et al: Compound heterozygosity at the 37. Hollak CE, Levi M, Berends F, et al: Coagulation abnormalities in type
sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with 1 Gaucher disease are due to low-grade activation and can be partly
low HDL cholesterol. Hum Genet 112:552, 2003. restored by enzyme supplementation therapy. Br J Haematol 96:470,
21. Balwani M, Grace ME, Desnick RJ: Gaucher disease: when molecular 1997.
testing and clinical presentation disagree—the novel c. 1226A>G(p. 38. Deghady A, Marzouk I, El-Shayeb A, et al: Coagulation abnormalities in
N370S)-RecNcil allele. J Inherit Metab Dis 34:789, 2011. type 1 Gaucher disease in children. Pediatr Hematol Oncol 23:411, 2006.