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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease typ...

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease typ...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1bfe842cf9ba40d29d841198835091e9

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

About this item

Full title

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

Publisher

England: BioMed Central Ltd

Journal title

BMC medical genomics, 2021-03, Vol.14 (1), p.81-8, Article 81

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).
This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutatio...

Alternative Titles

Full title

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_1bfe842cf9ba40d29d841198835091e9

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1bfe842cf9ba40d29d841198835091e9

Other Identifiers

ISSN

1755-8794

E-ISSN

1755-8794

DOI

10.1186/s12920-021-00936-9

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