Concepedia

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Rita Barone, Marco Carrozzi, Rossella Parini, Roberta Battini, Diego Martinelli, Maurizio Elia, Marco Spada, Franco Lilliu, Giovanni Ciana, Alberto Burlina,

Journal of Neurology · 2014 · 57 citations · 30 references

DOI

Concepts

References

30

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

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Neurology of inherited glycosylation disorders

Hudson H. Freeze, Erik A. Eklund, Bobby G. Ng et al. · The Lancet Neurology · 2012 · 205 citations · Full text

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 163 citations

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Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

Gert Matthijs, Els Schollen, Emile Van Schaftingen et al. · The American Journal of Human Genetics · 1998 · 151 citations · Full text

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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

Archives of Disease in Childhood · 2001 · 91 citations · Full text

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