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ORIGINAL ARTICLE

Shunji Tomatsu
Æ Tatiana
Dieter Æ Ida
V. Schwartz
Piedad Sarmient
Æ Roberto
Giugliani Æ Luis
A. Barrera
Norberto Guelbert
Æ Raquel Kremer
Gabriela M. Repetto
Æ Monica
A. Gutierrez
Tatsuo Nishioka
Æ Olga
Akihiko Noguchi

Publication date

January 2015

Abstract

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfat

Extracted data

Topics

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phenotypeHistoric place

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thumbnail of dbpedia resource

thumbnail of dbpedia resource

mucopolysaccharidosisBand

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Hopwood, J.
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Sukegawa, K.
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FILOCAMO M.
ORII K. O.
SLY W. S.
GUTIERREZ M. A.
NISHIOKA T.
PEA SERRATO O.
MONTAO A. M.
YAMAGUCHI S.
KONDO N.
ORII T.
NOGUCHI A.
DI NATALE, PAOLA

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Shams, S.
Isaian, A.
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Valstar, M.J.
Neijs, S.
Bruggenwirth, H.T.
Olmer, R.
Ruijter, G.J.
Wevers, R.A.
Diggelen, O.P. van
Poorthuis, B.J.H.M.
Halley, D.J.
Wijburg, F.A.

January 2010

Contains fulltext : 89261.pdf (publisher's version ) (Closed access)OBJECTIVE: Muc...

Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.

Ley-Martos, Myriam
Guerrero, Juan M
Lucas-Javato, Marta
Remón-García, Cristina
García-Lozano, J Raúl
Colón, Cristóbal
Crujeiras, Pablo
Rodrigues, Daniel
Paúl-Sánchez, Pedro
Macher, Hada C

January 2018

Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of t...

Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations

Valstar, MJ (Marlies)
Neijs, S
Brüggenwirth, Hennie
Olmer, Renske
Ruijter, George
Wevers, RA
Diggelen, Otto
Poorthuis, BJ
Halley, Dicky
Wijburg, FA

January 2010

Objective: Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a lysosomal storage diso...

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Bunge, S.
Kleijer, W. J.
Tylki-Szymanska, A.
Steglich, C.
Beck, M.
Tomatsu, S.
Fukuda, S.
Poorthuis, B. J.
Czartoryska, B.
Orii, T.
Gal, A.

January 1997

Mutation analysis of the N-acetylgalactosamine-6-sulfate sulfatase gene was performed in a group of ...

Mutational analysis of 105 mucopolysaccharidosis type VI patients

Karageorgos, L.
Brooks, D.
Pollard, A.
Melville, E.
Hein, L.
Clements, P.
Ketteridge, D.
Swiedler, S.
Beck, M.
Giugliani, R.
Harmatz, P.
Wraith, J.
Guffon, N.
Teles, E.
Miranda, C.
Hopwood, J.

January 2007

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caus...

Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)

Bunge, S.
Ince, H.
Steglich, C.
Kleijer, W.
Beck, M.
Zaremba, J.
van Diggelen, O.
Weber, B.
Hopwood, J.
Gal, A.

January 1997

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by d...

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype

Gunes, Nilay
Bayhan, Ilhan Avni
ULUDAĞ ALKAYA, Dilek
Yildirim, Timur
Toksoy, Guven
Uyguner, Zehra Oya
TÜYSÜZ, Beyhan

March 2021

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in ...

Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs

Yogalingam, G.
Pollard, T.
Gliddon, B.
Jolly, R.
Hopwood, J.

January 2002

Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomal recessive disease that occurs due to a de...

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

Yamada, N.
Fukuda, S.
Tomatsu, S.
Muller, V.
Hopwood, J.
Nelson, J.
Kato, Z.
Yamagishi, A.
Sukegawa, K.
Kondo, M.
Orii, T.

January 1998

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a...