- ►bmj.com S Tomatsu, T Nishioka, AM Montano, MA … - British Medical Journal, 2004 - jmg.bmj.com Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive
disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate
sulfatase (GALNS; EC3.1.6.4; OMIM# 253000). GALNS is one of the sulfatases ... Cited by 6 - Related articles - All 6 versions
S Fukuda, N Yamada, S Tomatsu, K Sukegawa, … - The Japanese journal of human genetics, 1997 - ncbi.nlm.nih.gov We report here a novel splice site mutation in intron 4 of the gene for
N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in an Afghanistan girl with
severe mucopolysaccharidosis IVA (classical Morquio disease). Direct ... Cited by 5 - Related articles - BL Direct
AM Montaño, I Kaitila, K Sukegawa, S … - Human genetics, 2003 - Springer Abstract MucopolysaccharidosisIVA (MPSIVA) is caused by the deficiency of the
lysosomal enzyme N-acetylgalac- tosamine-6-sulfate sulfatase encoded by the
GALNS gene on chromosome16. We describe, in detail, the clinical phenotype ... Cited by 17 - Related articles - BL Direct - All 4 versions
S Tomatsu, S Fukuda, A Cooper, JE Wraith, P … - Human Mutation, 1997 - interscience.wiley.com Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by
a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here,
we report our analysis of data on 21 patients of diverse ethnic and ... Cited by 18 - Related articles - BL Direct - All 2 versions
[CITATION] Moses. HL (1997) Expression of a truncated, kinase-defective TGF-beta type II receptor in …
L Bohacek, R Gupta - The American journal of medical technology, 1968 - ncbi.nlm.nih.gov 1: Am J Med Technol. 1968 May;34(5):287-8. A simple colloidal iron stain for
demonstration of acid mucopolysacchrides in mammalian tissues. Bohacek L, Gupta ... Cited by 2 - Related articles
Z Kato, S Fukuda, S Tomatsu, H Vega, T … - Human genetics, 1997 - Springer Abstract Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal
storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate
sulfa- tase (GALNS). In previous studies, we have found two common ... Cited by 21 - Related articles - BL Direct - All 3 versions
S Tomatsu, M Filocamo, KO Orii, WS Sly, MA … - Human mutation, 2004 - interscience.wiley.com Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by
the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation
screening of the GALNS gene was performed by RT-PCR with one amplicon and ... Cited by 16 - Related articles - BL Direct - All 3 versions
[CITATION] Protocols for gene delivery using cells
JH Wolfe, MS Sands - Protocols for Gene Transfer in Neuroscience: Towards …, 1996 Cited by 3 - Related articles
CF Yang, FJ Tsai, SP Lin, CC Lee, JY Wu - Human mutation, 2001 - ncbi.nlm.nih.gov 1: Hum Mutat. 2001 Sep;18(3):254. A novel in-frame deletion mutation (c106-111del)
identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. ... Cited by 3 - Related articles - BL Direct - All 2 versions
