Results 131 to 140 of about 1,596 (158)

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Journal of Inherited Metabolic Disease, 1995
SummaryPatients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten.
H, Northover, R A, Cowie, J E, Wraith
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GALNS mutations in Indian patients with mucopolysaccharidosis IVA

American Journal of Medical Genetics Part A, 2014
ABSTRACTMucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA.
Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R. Phadke, Seema Kapoor, Mahesh Kamate, I.C. Verma, Ratna Dua Puri, V.H. Sankar, A. Radha Rama Devi, S.J. Patil, Prajnya Ranganath, S. Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H.A. Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha   +26 more
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Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis IVA (MPS IVA) is one of the lysosomal storage diseases. It is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase.
Yasutsugu Chinen, Takeshi Higa, Shunji Tomatsu   +2 more
exaly   +2 more sources

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene

Molecular Genetics and Metabolism, 2006
Design of efficient treatment strategies for diseases requires clarification of the nature of each mutation causing the disease. In this study, we have investigated three factors to correctly predict the correlation between genotype and phenotype on N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene responsible for one of lysosomal storage diseases,
Shunji, Tomatsu, Adriana M, Montaño, Patricia, Lopez, Georgeta, Trandafirescu, Monica A, Gutierrez, Hirotaka, Oikawa, Tatsuo, Nishioka, Matheus B, Vieira, Tadao, Orii, Akihiko, Noguchi   +9 more
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Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Human Mutation, 1997
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 geographic origins studied by SSCP and sequencing analysis.
S, Tomatsu, S, Fukuda, A, Cooper, J E, Wraith, P, Ferreira, P, Di Natale, P, Tortora, A, Fujimoto, Z, Kato, N, Yamada, K, Isogai, A, Yamagishi, K, Sukegawa, Y, Suzuki, N, Shimozawa, N, Kondo, W S, Sly, T, Orii   +17 more
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Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

Human Genetics, 1995
Seven different restriction fragment length polymorphisms (RFLPs) at the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) locus were analyzed using Southern blotting and polymerase chain reaction based techniques to search for the frequency of each RFLP produced by StyI, SphI, HaeIII, StuI, HapII, XhoI, and BamHI restriction endonucleases ...
Hideki Iwata, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, G.M.M. Rezvi, Tatsuya Ogawa, Toshinori Hori, Yoshihiro Nakashima, Atsushi Yamagishi, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Tadao Orii   +13 more
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Lentiviral gene therapy for mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2023
Betul Celik, Estera Rintz, Fnu Nidhi, Shaukat Khan, Shunji Tomatsu   +4 more
openaire   +1 more source

Mutation analysis in mucopolysaccharidosis IVA

Molecular Genetics and Metabolism, 2013
Karen Tylee, Kathryn Booth, Heather Church   +2 more
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Obstructive airway in mucopolysaccharidosis IVA

Molecular Genetics and Metabolism, 2016
Shunji Tomatsu, Lauren W. Averill, Christian Pizarro, Mary Theroux, Kazuki Sawamoto, Tadao Orii   +5 more
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The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

American journal of human genetics, 1993
The gene for N-acetylgalactosamine-6-sulfatase, the deficiency of which results in Morquio A syndrome (mucopolysaccharidosis type IVA), was assigned to chromosome 16 at band q24.3 by fluorescence in situ hybridization. Localization of this band was confirmed by PCR analysis of a somatic cell hybrid panel used for fine mapping of chromosome 16.
E, Baker, X H, Guo, A M, Orsborn, G R, Sutherland, D F, Callen, J J, Hopwood, C P, Morris   +6 more
openaire   +1 more source