Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

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Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

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label

Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

@en

Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

@nl

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Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

@en

Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

@nl

P1476

Elevation of glycosaminoglycan ...... ith mucopolysaccharidosis VII.

@en

P2093

Ana Carolina Brusius-Facchin

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Carolina A Moreno

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Denise P Cavalcanti

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Fernanda Bender

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Kristiane Michelin-Tirelli

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Maira G Burin

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Rejane Gus Kessler

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Robert W Mason

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Roberto Giugliani

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Shunji Tomatsu

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P2860

Cloning, sequencing, and expression of cDNA for human beta-glucuronidase

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature

Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

Hydrops fetalis: lysosomal storage disorders in extremis.

The frequency of lysosomal storage diseases in The Netherlands.

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

P304

435-439

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P31

scholarly article

P356

10.1002/PD.5028

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Sandra Leistner-Segal

Francyne Kubaski

Pravin Patel

P577

2017-03-12T00:00:00Z

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P698

28207930

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P932

5436936

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