S Tomatsu
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Explore the profile of S Tomatsu including associated specialties, affiliations and a list of published articles.
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Articles
108
Citations
1825
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Recent Articles
1.
Hendriksz C, Harmatz P, Beck M, Jones S, Wood T, Lachman R, et al.
Mol Genet Metab
. 2013 May;
110(1-2):54-64.
PMID: 23665161
Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease....
2.
Tomatsu S, Montano A, Oikawa H, Smith M, Barrera L, Chinen Y, et al.
Curr Pharm Biotechnol
. 2011 Apr;
12(6):931-45.
PMID: 21506915
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in...
3.
Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, et al.
Clin Chim Acta
. 2008 Aug;
397(1-2):72-6.
PMID: 18710657
Background: Quantification studies of mutated mRNAs have not been carried out on Morquio A patients. Such studies are very important for the determination of stability of premature termination codons (PTC)...
4.
Katayama O, Namiki K, Iwakoshi K, Fujita H, Yasuhara H, Ohi I, et al.
Diagn Ther Endosc
. 2008 May;
6(2):77-82.
PMID: 18493529
Magnifying electronic endoscopes are frequently used to evaluate the pit patterns of the colorectal mucosa, but such endoscopes suffer from a number of problems. For example, they tend to have...
5.
Montano A, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, et al.
J Inherit Metab Dis
. 2007 Sep;
30(5):758-67.
PMID: 17876718
Mucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed for seven MPS IVA patients with attenuated...
6.
Montano A, Tomatsu S, Gottesman G, Smith M, Orii T
J Inherit Metab Dis
. 2007 Mar;
30(2):165-74.
PMID: 17347914
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The natural history of this disease is incompletely understood. To study which...
7.
Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, et al.
J Inherit Metab Dis
. 2006 Nov;
29(6):755-61.
PMID: 17091340
Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene...
8.
Tomatsu S, Gutierrez M, Ishimaru T, Pena O, Montano A, Maeda H, et al.
J Inherit Metab Dis
. 2005 Sep;
28(5):743-57.
PMID: 16151906
Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In...
9.
Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon S, Gutierrez M, et al.
J Inherit Metab Dis
. 2005 May;
28(2):187-202.
PMID: 15877208
The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGs and sphingolipids. Each type of MPS accumulates specific GAGs. The lysosomal enzymes N-acetylgalactosamine-6-sulphate...
10.
Tomatsu S, Nishioka T, Montano A, Gutierrez M, Pena O, Orii K, et al.
J Med Genet
. 2004 Jul;
41(7):e98.
PMID: 15235041
No abstract available.