Genetics of Lysosomal Storage Disorders and Counselling

Lysosomal Storage Disorders: A Practical Guide

Volumn , Issue , 2012, Pages 29-36

  Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Cell and tissue dysfunction; Disease progression; Genetic or biochemical diagnosis; Lysosomal storage disorders (LSDs); Progressive lysosomal accumulation

Indexed keywords

EID: 84886482586     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118514672.ch4     Document Type: Chapter

References (22)

1. Arsov T, Smith K, Damiano J, et al. Kufs disease, the major adult-form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet 2011;88:566-573.
2. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-716.
3. Baronica KB, Minac K, Ozretic, et al. Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correction and estimation of disease progression. Coll Antropol 2011;35 (Suppl 1):11-16.
4. Brouns R, Thijs V, Eyskens F, et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010;41:863-868.
5. Fuller M, Tucker JN, Lang DL, et al. Screening patients referred to a metabolic clinic for lysosomal storage disorders. J Med Genet 2011;48:422-425.
6. Lin HY, Chong KW, Hsu JH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009;2:450-456.
7. Martinuk F, Chen A, Mack A, et al. Carrier frequency of glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998;79:69-72.
8. Meikle PJ, Hopwood JJ, Clague, AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-254.
9. Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-301.
10. Moore SJ, Buckley DJ, MacMillan A, et al. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet 2008;74:213-222.
11. Nosková L, Stránecký V, Hartmannová H, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011;89:241-252.
12. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004:12:87-92.
13. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage disorders in The Netherlands. Hum Genet 1999;105:151-156.
14. Poupetová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010;33:387-386.
15. Reuser AJ, Verheijen FW, Bali D, et al. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders-current status and perspectives. Mol Genet Metab 2011;104:144-148.
16. Simonaro CM, Park J-H, Eliyahu E, et al. Imprinting at the SMPD1 locus: implications for acid sphingomyelinasedeficient Niemann-Pick disease. Am J Hum Genet 2006:78:865-870.
17. Spáčil Z, Elliott S, Reeber SL, et al. Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases. Anal Chem 2011;83:4822-4828.
18. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.
19. Tinsa F, Caillaud C, Vanier MT, et al. An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient. J Child Neurol 2010;25:82-86.
20. Tylki-Szymańska A, Ługowska A, Chmielik J, et al. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy. Am J Med Genet 2002;110:315-319.
21. Weber Byars AM, McKellop JM, Gyato K, et al. Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers. Child Neuropychol 2001;7:54-58.
22. Zhou H, Fernhoff P, Vogt RF. Newborn bloodspot screening for lysosomal storage disorders. J Pediatr 2011;159:7-13.