130 related articles for article (PubMed ID: 11119053)
1. [Lysosome enzyme pseudodeficiency].
Bronner P; Rodier G; Cohen E; Derouiche F; Boulay C; Courtois S
Rev Neurol (Paris); 2000 Nov; 156(11):1005-12. PubMed ID: 11119053
[TBL] [Abstract][Full Text] [Related]
2. [Pseudodeficiency of lysosomal enzymes].
Czartoryska B
Neurol Neurochir Pol; 1995; 29(1):7-15. PubMed ID: 7596481
[TBL] [Abstract][Full Text] [Related]
3. Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV; Gorovenko NG
Ukr Biochem J; 2016; 88(5):96-106. PubMed ID: 29235819
[TBL] [Abstract][Full Text] [Related]
4. Lysosomal storage disorders.
Sheth J; Patel P; Sheth F; Shah R
Indian Pediatr; 2004 Mar; 41(3):260-5. PubMed ID: 15064514
[TBL] [Abstract][Full Text] [Related]
5. Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.
Francis GS; Bonni A; Shen N; Hechtman P; Yamut B; Carpenter S; Karpati G; Chang PL
Ann Neurol; 1993 Aug; 34(2):212-8. PubMed ID: 8101704
[TBL] [Abstract][Full Text] [Related]
6. Deficiency of lysosomal hydrolases in apparently healthy individuals.
Zlotogora J; Bach G
Am J Med Genet; 1983 Jan; 14(1):73-80. PubMed ID: 6131608
[TBL] [Abstract][Full Text] [Related]
7. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Regis S; Corsolini F; Stroppiano M; Cusano R; Filocamo M
Hum Genet; 2002 Apr; 110(4):351-5. PubMed ID: 11941485
[TBL] [Abstract][Full Text] [Related]
8. Arylsulfatase A pseudodeficiency incidence in Turkey.
Emre S; Topçu M; Terzioğlu M; Renda Y
Turk J Pediatr; 2000; 42(2):115-7. PubMed ID: 10936976
[TBL] [Abstract][Full Text] [Related]
9. Screening patients referred to a metabolic clinic for lysosomal storage disorders.
Fuller M; Tucker JN; Lang DL; Dean CJ; Fietz MJ; Meikle PJ; Hopwood JJ
J Med Genet; 2011 Jun; 48(6):422-5. PubMed ID: 21415080
[TBL] [Abstract][Full Text] [Related]
10. Newborn screening for lysosomal storage disorders.
Meikle PJ; Grasby DJ; Dean CJ; Lang DL; Bockmann M; Whittle AM; Fietz MJ; Simonsen H; Fuller M; Brooks DA; Hopwood JJ
Mol Genet Metab; 2006 Aug; 88(4):307-14. PubMed ID: 16600651
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Bertelli M; Gallo S; Buda A; Cecchin S; Fabbri A; Lapucci C; Andrighetto G; Sidoti V; Lorusso L; Pandolfo M
J Clin Neurosci; 2006 May; 13(4):443-8. PubMed ID: 16678723
[TBL] [Abstract][Full Text] [Related]
12. Genetic errors and enzyme replacement strategies.
Brady RO
Res Publ Assoc Res Nerv Ment Dis; 1983; 60():181-93. PubMed ID: 6130585
[No Abstract] [Full Text] [Related]
13. Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Anlar B; Waye JS; Eng B; Oguz KK
Dev Med Child Neurol; 2006 May; 48(5):383-7. PubMed ID: 16608548
[TBL] [Abstract][Full Text] [Related]
14. Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.
Louie E; Rafi MA; Wenger DA
Clin Chim Acta; 1991 May; 199(1):7-15. PubMed ID: 1682071
[TBL] [Abstract][Full Text] [Related]
15. Intrafamilial variability in lysosomal storage diseases.
Zlotogora J
Am J Med Genet; 1987 Jul; 27(3):633-8. PubMed ID: 3115101
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Bär J; Linke T; Ferlinz K; Neumann U; Schuchman EH; Sandhoff K
Hum Mutat; 2001 Mar; 17(3):199-209. PubMed ID: 11241842
[TBL] [Abstract][Full Text] [Related]
17. [Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)].
Okada S; Taniike M
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):394-6. PubMed ID: 9645090
[No Abstract] [Full Text] [Related]
18. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Leinekugel P; Michel S; Conzelmann E; Sandhoff K
Hum Genet; 1992 Mar; 88(5):513-23. PubMed ID: 1348043
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
[TBL] [Abstract][Full Text] [Related]
20. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Civallero G; Michelin K; de Mari J; Viapiana M; Burin M; Coelho JC; Giugliani R
Clin Chim Acta; 2006 Oct; 372(1-2):98-102. PubMed ID: 16712827
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
