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Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolys...

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Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolys...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2674006544

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

About this item

Full title

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

Author / Creator

Al Zaabi, Nuha Nasser , Sirajum, Muneera , Al-Wawi, Mohd Zaki and Al Suwaiji, Mohammed

Journal title

Clinical case reports, 2022, Vol.10 (5), p.e05904-e05904

Language

English

Formats

Reports

More information

Alternative Titles

Full title

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2674006544

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2674006544

Other Identifiers

ISSN

2050-0904

E-ISSN

2050-0904

DOI

10.1002/ccr3.5904

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