(Q28204732)

English

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

scientific article (publication date: March 2002)

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title

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency (English)

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1 reference

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congenital disorder of glycosylation

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based on heuristic

inferred from title

congenital disorder of glycosylation type Ia

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Vibeke Westphal

1

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Susanne Kjaergaard

series ordinal

2

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Els Schollen

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3

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Kevin Martens

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4

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Stephanie Grunewald

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5

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Marianne Schwartz

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6

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Gert Matthijs

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7

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Hudson H Freeze

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8

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language of work or name

English

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publication date

1 March 2002

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published in

Human Molecular Genetics

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volume

11

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page(s)

599-604

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issue

5

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Identifiers

DOI

10.1093/HMG/11.5.599

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

493540

OpenCitations bibliographic resource ID

493540

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

493540

(Q28204732)

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

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