158 related articles for article (PubMed ID: 16919251)
21. Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K; Naganawa Y; Matsuzawa F; Aikawa S; Doi H; Sasagasako N; Yamada T; Kira J; Kobayashi T; Pshezhetsky AV; Sakuraba H
J Hum Genet; 2002; 47(1):29-37. PubMed ID: 11829139
[TBL] [Abstract][Full Text] [Related]
22. Over-expression of human lysosomal alpha-mannosidase in mouse embryonic stem cells.
Robinson AJ; Crawley AC; Hopwood JJ
Mol Genet Metab; 2005 Jul; 85(3):203-12. PubMed ID: 15979032
[TBL] [Abstract][Full Text] [Related]
23. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG; Donnarumma M; Montalvo AL; Dominissini S; Kroos M; Rosano C; Stroppiano M; Bianco MG; Donati MA; Parenti G; D'Amico A; Ciana G; Di Rocco M; Reuser A; Bembi B; Filocamo M
Hum Mutat; 2008 Jun; 29(6):E27-36. PubMed ID: 18429042
[TBL] [Abstract][Full Text] [Related]
24. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Dardis A; Zampieri S; Filocamo M; Burlina A; Bembi B; Pittis MG
Hum Mutat; 2005 Aug; 26(2):164. PubMed ID: 16010684
[TBL] [Abstract][Full Text] [Related]
25. Early onset alpha-mannosidosis with slow progression in three Hispanic males.
Lyons MJ; Wood T; Espinoza L; Stensland HM; Holden KR
Dev Med Child Neurol; 2007 Nov; 49(11):854-7. PubMed ID: 17979865
[TBL] [Abstract][Full Text] [Related]
26. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L; Stensland HM; Olsen KJ; Wibrand F; Klenow HB; Beck M; Amraoui Y; Arash L; Fogh J; Nilssen Ø; Dali CI; Lund AM
Orphanet J Rare Dis; 2015 Jun; 10():70. PubMed ID: 26048034
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Alpha-mannosidosis.
Malm D; Nilssen Ø
Orphanet J Rare Dis; 2008 Jul; 3():21. PubMed ID: 18651971
[TBL] [Abstract][Full Text] [Related]
29. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
[TBL] [Abstract][Full Text] [Related]
30. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
31. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
Castaman G; Giacomelli SH; Ivaskevicius V; Schroeder V; Kohler HP; Dragani A; Biasioli C; Oldenburg J; Madeo D; Rodeghiero F
Haemophilia; 2008 Jan; 14(1):96-102. PubMed ID: 18028394
[TBL] [Abstract][Full Text] [Related]
32. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
Erdos M; Alapi K; Balogh I; Oroszlán G; Rákóczi E; Sümegi J; Maródi L
Exp Hematol; 2006 Nov; 34(11):1517-21. PubMed ID: 17046571
[TBL] [Abstract][Full Text] [Related]
33. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Molho-Pessach V; Bargal R; Abramowitz Y; Doviner V; Ingber A; Raas-Rothschild A; Ne'eman Z; Zeigler M; Zlotogorski A
J Am Acad Dermatol; 2007 Sep; 57(3):407-12. PubMed ID: 17420068
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. 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]
37. α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.
Wiesinger T; Schwarz M; Mechtler TP; Liebmann-Reindl S; Streubel B; Kasper DC
Mol Genet Metab; 2020 Jun; 130(2):149-152. PubMed ID: 32331969
[TBL] [Abstract][Full Text] [Related]
38. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L; de Koning TJ; Geboers AJ; van den Berg IE; Berger R; Klomp LW
Hum Mutat; 2009 May; 30(5):749-56. PubMed ID: 19235232
[TBL] [Abstract][Full Text] [Related]
39. Behavioural characterisation of the alpha-mannosidosis guinea pig.
Robinson AJ; Crawley AC; Auclair D; Weston PF; Hirte C; Hemsley KM; Hopwood JJ
Behav Brain Res; 2008 Jan; 186(2):176-84. PubMed ID: 17889945
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
