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- Alhadeff J. A., Andrews-Smith G. L. Kinetic and immunochemical characterization of low-activity serum alpha-L-fucosidase from a phenotypically normal individual. Biochem Med. 1978 Dec;20(3):357–363. doi: 10.1016/0006-2944(78)90083-2. [DOI] [PubMed] [Google Scholar]
- Bach G., Rosenmann E., Karni A., Cohen T. Pseudodeficiency of alpha-galactosidase A. Clin Genet. 1982 Jan;21(1):59–64. [PubMed] [Google Scholar]
- Baldinger S., Pierpont M. E., Wenger D. A. Pseudodeficiency of arylsulfatase A: a counseling dilemma. Clin Genet. 1987 Feb;31(2):70–76. doi: 10.1111/j.1399-0004.1987.tb02772.x. [DOI] [PubMed] [Google Scholar]
- Barth M. L., Fensom A., Harris A. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet. 1993 Mar;91(1):73–77. doi: 10.1007/BF00230227. [DOI] [PubMed] [Google Scholar]
- Beutler E., Nguyen N. J., Henneberger M. W., Smolec J. M., McPherson R. A., West C., Gelbart T. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993 Jan;52(1):85–88. [PMC free article] [PubMed] [Google Scholar]
- Cao Z., Natowicz M. R., Kaback M. M., Lim-Steele J. S., Prence E. M., Brown D., Chabot T., Triggs-Raine B. L. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet. 1993 Dec;53(6):1198–1205. [PMC free article] [PubMed] [Google Scholar]
- Chabas A., Giros M. L., Guardiola A. Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inherit Metab Dis. 1991;14(6):908–914. doi: 10.1007/BF01800472. [DOI] [PubMed] [Google Scholar]
- Clarke J. T., Knaack J., Crawhall J. C., Wolfe L. S. Ceramide trihexosidosis (fabry's disease) without skin lesions. N Engl J Med. 1971 Feb 4;284(5):233–235. doi: 10.1056/NEJM197102042840503. [DOI] [PubMed] [Google Scholar]
- Desnick R. J., Schuette J. L., Golbus M. S., Jackson L., Lubs H. A., Ledbetter D. H., Mahoney M. J., Pergament E., Simpson J. L., Zachary J. M. First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study. Prenat Diagn. 1992 May;12(5):357–372. doi: 10.1002/pd.1970120505. [DOI] [PubMed] [Google Scholar]
- Dlott B., d'Azzo A., Quon D. V., Neufeld E. F. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. J Biol Chem. 1990 Oct 15;265(29):17921–17927. [PubMed] [Google Scholar]
- Dreyfus J. C., Poenaru L., Svennerholm L. Absence of hexosaminidase A and B in a normal adult. N Engl J Med. 1975 Jan 9;292(2):61–63. doi: 10.1056/NEJM197501092920201. [DOI] [PubMed] [Google Scholar]
- Dreyfus J. C., Poenaru L., Vibert M., Ravise N., Boue J. Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris". Am J Hum Genet. 1977 May;29(3):287–293. [PMC free article] [PubMed] [Google Scholar]
- Dubois G., Harzer K., Baumann N. Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am J Hum Genet. 1977 Mar;29(2):191–194. [PMC free article] [PubMed] [Google Scholar]
- Francis G. S., Bonni A., Shen N., Hechtman P., Yamut B., Carpenter S., Karpati G., Chang P. L. Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling. Ann Neurol. 1993 Aug;34(2):212–218. doi: 10.1002/ana.410340218. [DOI] [PubMed] [Google Scholar]
- Gatti R., Borrone C., Filocamo M., Pannone N., Di Natale P. Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells. Prenat Diagn. 1985 Mar-Apr;5(2):149–154. doi: 10.1002/pd.1970050209. [DOI] [PubMed] [Google Scholar]
- Gieselmann V. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Hum Genet. 1991 Jan;86(3):251–255. doi: 10.1007/BF00202403. [DOI] [PubMed] [Google Scholar]
- Gieselmann V., Fluharty A. L., Tønnesen T., Von Figura K. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet. 1991 Aug;49(2):407–413. [PMC free article] [PubMed] [Google Scholar]
- Gieselmann V., Polten A., Kreysing J., Kappler J., Fluharty A., von Figura K. Molecular genetics of metachromatic leukodystrophy. Dev Neurosci. 1991;13(4-5):222–227. doi: 10.1159/000112164. [DOI] [PubMed] [Google Scholar]
- Gieselmann V., Polten A., Kreysing J., von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9436–9440. doi: 10.1073/pnas.86.23.9436. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Grebner E. E., Mansfield D. A., Raghavan S. S., Kolodny E. H., d'Azzo A., Neufeld E. F., Jackson L. G. Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet. 1986 Apr;38(4):505–514. [PMC free article] [PubMed] [Google Scholar]
- Herska M., Moscovich D. G., Kalian M., Gottlieb D., Bach G. Aryl sulfatase A deficiency in psychiatric and neurologic patients. Am J Med Genet. 1987 Mar;26(3):629–635. doi: 10.1002/ajmg.1320260318. [DOI] [PubMed] [Google Scholar]
- Herz B., Bach G. Arylsulfatase A in pseudodeficiency. Hum Genet. 1984;66(2-3):147–150. doi: 10.1007/BF00286589. [DOI] [PubMed] [Google Scholar]
- Hohenschutz C., Eich P., Friedl W., Waheed A., Conzelmann E., Propping P. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet. 1989 Apr;82(1):45–48. doi: 10.1007/BF00288270. [DOI] [PubMed] [Google Scholar]
- Kappler J., Leinekugel P., Conzelmann E., Kleijer W. J., Kohlschütter A., Tønnesen T., Rochel M., Freycon F., Propping P. Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. Hum Genet. 1991 Mar;86(5):463–470. doi: 10.1007/BF00194634. [DOI] [PubMed] [Google Scholar]
- Kappler J., Pötter W., Gieselmann V., Kiessling W., Friedl W., Propping P. Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis? Dev Neurosci. 1991;13(4-5):228–231. doi: 10.1159/000112165. [DOI] [PubMed] [Google Scholar]
- Kappler J., Watts R. W., Conzelmann E., Gibbs D. A., Propping P., Gieselmann V. Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. Eur J Pediatr. 1991 Feb;150(4):287–290. doi: 10.1007/BF01955534. [DOI] [PubMed] [Google Scholar]
- Kelly T. E., Reynolds L. W., O'Brien J. S. Segregation within a family of two mutant alleles for hexosaminidase A. Clin Genet. 1976 May;9(5):540–543. doi: 10.1111/j.1399-0004.1976.tb01609.x. [DOI] [PubMed] [Google Scholar]
- Kihara H., Meek W. E., Fluharty A. L. Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy. Pediatr Res. 1984 Oct;18(10):1021–1022. doi: 10.1203/00006450-198410000-00022. [DOI] [PubMed] [Google Scholar]
- Li Z. G., Waye J. S., Chang P. L. Diagnosis of arylsulfatase A deficiency. Am J Med Genet. 1992 Aug 1;43(6):976–982. doi: 10.1002/ajmg.1320430614. [DOI] [PubMed] [Google Scholar]
- Mules E. H., Hayflick S., Dowling C. E., Kelly T. E., Akerman B. R., Gravel R. A., Thomas G. H. Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch. Hum Mutat. 1992;1(4):298–302. doi: 10.1002/humu.1380010406. [DOI] [PubMed] [Google Scholar]
- Navon R., Argov Z., Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet. 1986 May;24(1):179–196. doi: 10.1002/ajmg.1320240123. [DOI] [PubMed] [Google Scholar]
- Nelson P. V., Carey W. F., Morris C. P. Population frequency of the arylsulphatase A pseudo-deficiency allele. Hum Genet. 1991 May;87(1):87–88. doi: 10.1007/BF01213099. [DOI] [PubMed] [Google Scholar]
- Nishimoto J., Inui K., Okada S., Ishigami W., Hirota S., Yamano T., Yabuuchi H. A family with pseudodeficiency of acid alpha-glucosidase. Clin Genet. 1988 Apr;33(4):254–261. doi: 10.1111/j.1399-0004.1988.tb03446.x. [DOI] [PubMed] [Google Scholar]
- O'Brien J. S., Tennant L., Veath M. L., Scott C. R., Bucknall W. E. Characterization of unusual hexosaminidase A (HEX A) deficient human mutants. Am J Hum Genet. 1978 Nov;30(6):602–608. [PMC free article] [PubMed] [Google Scholar]
- Penzien J. M., Kappler J., Herschkowitz N., Schuknecht B., Leinekugel P., Propping P., Tønnesen T., Lou H., Moser H., Zierz S. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am J Hum Genet. 1993 Mar;52(3):557–564. [PMC free article] [PubMed] [Google Scholar]
- Polten A., Fluharty A. L., Fluharty C. B., Kappler J., von Figura K., Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med. 1991 Jan 3;324(1):18–22. doi: 10.1056/NEJM199101033240104. [DOI] [PubMed] [Google Scholar]
- Ramage P., Cunningham W. L. The occurrence of low alpha-L-fucosidase activities in normal human serum. Biochim Biophys Acta. 1975 Oct 22;403(2):473–476. doi: 10.1016/0005-2744(75)90075-3. [DOI] [PubMed] [Google Scholar]
- Schaap T., Zlotogora J., Elian E., Barak Y., Bach G. The genetics of the aryl sulfatase A locus. Am J Hum Genet. 1981 Jul;33(4):531–539. [PMC free article] [PubMed] [Google Scholar]
- Shen N., Li Z. G., Waye J. S., Francis G., Chang P. L. Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. Am J Med Genet. 1993 Mar 1;45(5):631–637. doi: 10.1002/ajmg.1320450523. [DOI] [PubMed] [Google Scholar]
- Taylor H. A., Thomas G. H. Pseudodeficiency of alpha-iduronidase. J Inherit Metab Dis. 1993;16(6):1058–1059. doi: 10.1007/BF00711533. [DOI] [PubMed] [Google Scholar]
- Thomas G. H., Raghavan S., Kolodny E. H., Frisch A., Neufeld E. F., O'Brien J. S., Reynolds L. W., Miller C. S., Shapiro J., Kazazian H. H., Jr Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediatr Res. 1982 Mar;16(3):232–237. doi: 10.1203/00006450-198203000-00014. [DOI] [PubMed] [Google Scholar]
- Tomczak J., Boogen C., Grebner E. E. Distribution of a pseudodeficiency allele among Tay-Sachs carriers. Am J Hum Genet. 1993 Aug;53(2):537–539. [PMC free article] [PubMed] [Google Scholar]
- Triggs-Raine B. L., Mules E. H., Kaback M. M., Lim-Steele J. S., Dowling C. E., Akerman B. R., Natowicz M. R., Grebner E. E., Navon R., Welch J. P. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet. 1992 Oct;51(4):793–801. [PMC free article] [PubMed] [Google Scholar]
- Turner B. M., Turner V. S., Beratis N. G., Hirschhorn K. Polymorphism of human alpha fucosidase. Am J Hum Genet. 1975 Sep;27(5):651–661. [PMC free article] [PubMed] [Google Scholar]
- Tønnesen T., Bro P. V., Brøndum Nielsen K., Lykkelund C. Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family. Acta Paediatr Scand. 1983 Mar;72(2):175–178. doi: 10.1111/j.1651-2227.1983.tb09692.x. [DOI] [PubMed] [Google Scholar]
- Vidgoff J., Buist N. R., O'Brien J. S. Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman. Am J Hum Genet. 1973 Jul;25(4):372–381. [PMC free article] [PubMed] [Google Scholar]
- Wauters J. G., Stuer K. L., Van Elsen A., Willems P. J. alpha-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism. Biochem Genet. 1992 Apr;30(3-4):131–141. [PubMed] [Google Scholar]
- Wenger D. A., Louie E. Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. Dev Neurosci. 1991;13(4-5):216–221. doi: 10.1159/000112163. [DOI] [PubMed] [Google Scholar]
- Wenger D. A., Riccardi V. M. Possible misdiagnosis of Krabbe disease. J Pediatr. 1976 Jan;88(1):76–79. doi: 10.1016/s0022-3476(76)80732-9. [DOI] [PubMed] [Google Scholar]
- Whitley C. B., Gorlin R. J., Krivit W. A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome. Am J Med Genet. 1987 Sep;28(1):233–243. doi: 10.1002/ajmg.1320280136. [DOI] [PubMed] [Google Scholar]
- Willems P. J., Gatti R., Darby J. K., Romeo G., Durand P., Dumon J. E., O'Brien J. S. Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991 Jan;38(1):111–131. doi: 10.1002/ajmg.1320380125. [DOI] [PubMed] [Google Scholar]
- Wood S. Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individuals. J Lab Clin Med. 1976 Sep;88(3):469–476. [PubMed] [Google Scholar]
- Zlotogora J., Bach G. Deficiency of lysosomal hydrolases in apparently healthy individuals. Am J Med Genet. 1983 Jan;14(1):73–80. doi: 10.1002/ajmg.1320140112. [DOI] [PubMed] [Google Scholar]
- von Scheidt W., Eng C. M., Fitzmaurice T. F., Erdmann E., Hübner G., Olsen E. G., Christomanou H., Kandolf R., Bishop D. F., Desnick R. J. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991 Feb 7;324(6):395–399. doi: 10.1056/NEJM199102073240607. [DOI] [PubMed] [Google Scholar]