180 related articles for article (PubMed ID: 10071201)
1. Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.
Frostad Riise HM; Hansen GM; Tollersrud OK; Nilssen O
Hum Genet; 1999 Jan; 104(1):106-7. PubMed ID: 10071201
[TBL] [Abstract][Full Text] [Related]
2. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats.
Berg T; Tollersrud OK; Walkley SU; Siegel D; Nilssen O
Biochem J; 1997 Dec; 328 ( Pt 3)(Pt 3):863-70. PubMed ID: 9396732
[TBL] [Abstract][Full Text] [Related]
3. alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis.
Berg T; Hopwood JJ
Biochim Biophys Acta; 2002 Mar; 1586(2):169-76. PubMed ID: 11959458
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of mutations in alpha-mannosidosis.
Berg T; Riise HM; Hansen GM; Malm D; Tranebjaerg L; Tollersrud OK; Nilssen O
Am J Hum Genet; 1999 Jan; 64(1):77-88. PubMed ID: 9915946
[TBL] [Abstract][Full Text] [Related]
5. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
Nilssen O; Berg T; Riise HM; Ramachandran U; Evjen G; Hansen GM; Malm D; Tranebjaerg L; Tollersrud OK
Hum Mol Genet; 1997 May; 6(5):717-26. PubMed ID: 9158146
[TBL] [Abstract][Full Text] [Related]
6. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
Gotoda Y; Wakamatsu N; Kawai H; Nishida Y; Matsumoto T
Am J Hum Genet; 1998 Oct; 63(4):1015-24. PubMed ID: 9758606
[TBL] [Abstract][Full Text] [Related]
7. Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
Leipprandt JR; Chen H; Horvath JE; Qiao XT; Jones MZ; Friderici KH
Mamm Genome; 1999 Dec; 10(12):1137-41. PubMed ID: 10594236
[TBL] [Abstract][Full Text] [Related]
8. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Uchino Y; Fukushige T; Yotsumoto S; Hashiguchi T; Taguchi H; Suzuki N; Konohana I; Kanzaki T
Br J Dermatol; 2003 Jul; 149(1):23-9. PubMed ID: 12890191
[TBL] [Abstract][Full Text] [Related]
9. Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis.
Stinchi S; Lüllmann-Rauch R; Hartmann D; Coenen R; Beccari T; Orlacchio A; von Figura K; Saftig P
Hum Mol Genet; 1999 Aug; 8(8):1365-72. PubMed ID: 10400983
[TBL] [Abstract][Full Text] [Related]
10. Recent progress in lysosomal alpha-mannosidase and its deficiency.
Sun H; Wolfe JH
Exp Mol Med; 2001 Mar; 33(1):1-7. PubMed ID: 11322479
[TBL] [Abstract][Full Text] [Related]
11. Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
Hansen G; Berg T; Riise Stensland HM; Heikinheimo P; Klenow H; Evjen G; Nilssen Ø; Tollersrud OK
Biochem J; 2004 Jul; 381(Pt 2):537-46. PubMed ID: 15035660
[TBL] [Abstract][Full Text] [Related]
12. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.
Bedilu R; Nummy KA; Cooper A; Wevers R; Smeitink J; Kleijer WJ; Friderici KH
Mol Genet Metab; 2002 Dec; 77(4):282-90. PubMed ID: 12468273
[TBL] [Abstract][Full Text] [Related]
13. Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Kleijer WJ; Hu P; Thoomes R; Boer M; Huijmans JG; Blom W; Van Diggelen OP; Seemanova E; Macek M
J Inherit Metab Dis; 1990; 13(6):867-72. PubMed ID: 2079835
[TBL] [Abstract][Full Text] [Related]
14. Molecular heterogeneity for bovine alpha-mannosidosis: PCR based assays for detection of breed-specific mutations.
Berg T; Healy PJ; Tollersrud OK; Nilssen O
Res Vet Sci; 1997; 63(3):279-82. PubMed ID: 9491457
[TBL] [Abstract][Full Text] [Related]
15. Isozyme pattern of leukocyte alpha-D-mannosidase in patients with mannosidosis.
Kawai H; Yoneda K; Takeda M; Nishida Y; Nishino H; Masuda K; Saito S
Jinrui Idengaku Zasshi; 1988 Mar; 33(1):1-7. PubMed ID: 3392840
[No Abstract] [Full Text] [Related]
16. Beta-mannosidosis in two brothers with hearing loss.
Dorland L; Duran M; Hoefnagels FE; Breg JN; Fabery de Jonge H; Cransberg K; van Sprang FJ; van Diggelen OP
J Inherit Metab Dis; 1988; 11 Suppl 2():255-8. PubMed ID: 3141715
[No Abstract] [Full Text] [Related]
17. Alpha-mannosidosis and mutational analysis in a Turkish patient.
Olmez A; Nilssen O; Coşkun T; Klenow H
Turk J Pediatr; 2003; 45(1):46-50. PubMed ID: 12718372
[TBL] [Abstract][Full Text] [Related]
18. [Mannosidosis. Clinical and enzymatic studies in a family].
Pascual-Castroviejo I; Chabas A; de la Cruz M; Verdú A; Roche C
Neurologia; 1986; 1(2):58-62. PubMed ID: 3079111
[No Abstract] [Full Text] [Related]
19. Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
Prence EM; Natowicz MR
Clin Chem; 1992 Apr; 38(4):501-3. PubMed ID: 1568314
[TBL] [Abstract][Full Text] [Related]
20. Sisters with alpha-mannosidosis and systemic lupus erythematosus.
Urushihara M; Kagami S; Yasutomo K; Ito M; Kondo S; Kitamura A; Malm D; Klenow H; Nilssen O; Kuroda Y
Eur J Pediatr; 2004 Apr; 163(4-5):192-5. PubMed ID: 14760529
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]