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Article

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Molecular genetics and metabolism - 1 Jan 2000

Dũng Vũ Chí, Tomatsu Shunji, Montaño Adriana M, Gottesman Gary, Bober Michael B, Mackenzie William, Maeda Miho, Mitchell Grant A, Suzuki Yasuyuki, Orii Tadao

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA) is caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to systemic skeletal dysplasia because of excessive storage of keratan sulfate (KS) in chondrocytes. In an effort to determine a precise prognosis and personalized treatment, we aim to characterize clinical, biochemical, and molecular findings in MPS IVA patients, and to seek correlations...

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Identifiers

PMID: 23876334
DOI: 10.1016/j.ymgme.2013.06.008
PMCID: PMC3779837

Genes

GALNS

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Related research

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Research trail→

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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.PMID 23876334Read ↗

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.Semantic proximity Read ↗

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Semantic proximity Read ↗

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.Semantic proximity Read ↗

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Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).Semantic proximity Read ↗

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort studySemantic proximity Read ↗

[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].Semantic proximity Read ↗

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Semantic proximity Read ↗

Mucopolysaccharidosis IVA: Current Disease Models and DrawbacksSemantic proximity Read ↗

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