Concepedia

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

S. M. Schade van Westrum, Paul J. Nederkoorn, P. Richard Schuurman, T. Vulsma, Marinus Durán, Bwee Tien Poll‐The

The Journal of Pediatrics · 2006 · 13 citations · 9 references

DOI

Concepts

References

9

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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Congenital disorders of glycosylation (CDG): It's all in it!

Jaak Jaeken · Journal of Inherited Metabolic Disease · 2003 · 142 citations

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Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

Peter T. Clayton, Bryan Winchester, Geoffrey Keir · Journal of Inherited Metabolic Disease · 1992 · 70 citations

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Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

E. Miossec-Chauvet, Yann Mikaeloff, D. Héron et al. · Neuropediatrics · 2003 · 46 citations

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Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Val�rie Drouin-Garraud, Mathilde Belgrand, S. Gr�newald et al. · American Journal of Medical Genetics · 2001 · 39 citations

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