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Items: 3

1.

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.

Hum Mutat. 1997;10(5):368-75.

PMID:
9375852
2.

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A.

Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7.

PMID:
14711889
3.

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

Tomatsu S, Nishioka T, MontaƱo AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A.

J Med Genet. 2004 Jul;41(7):e98. No abstract available.

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