Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature.

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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2015 nî lūn-bûn

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

@en

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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P1476

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

@en

P2093

Angela Dajnoki

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Britt A Johnson

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Olaf A Bodamer

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P2860

Structure and sequence of the human alpha-L-iduronidase gene

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I

The natural history of MPS I: global perspectives from the MPS I Registry.

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

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17.17.1-8

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scholarly article

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10.1002/0471142905.HG1717S84

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2015-01-20T00:00:00Z

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25599668

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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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P2860

P2860

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

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P1476

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P1476

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