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Publications by Belén Pérez-Dueñas

Erratum To: Longitudinal Volumetric and 2D Assessment of Cerebellar Atrophy in a Large Cohort of Children With Phosphomannomutase Deficiency (PMM2-CDG)

Journal of Inherited Metabolic Disease
Genetics
2017English

Related publications

Pmm2-CDG

2020English

Child Neurology: A Case of PMM2-CDG (CDG 1a) Presenting With Unusual Eye Movements

Neurology
Neurology
2012English

Erratum To: What Is New in CDG?

Journal of Inherited Metabolic Disease
Genetics
2017English

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

An Aci I Polymorphism in the 3′ Untranslated Region of the Human Phosphomannomutase 2 ( PMM2 ) Gene

Journal of Human Genetics
Genetics
1999English

Socio-Emotional Problems in Children With CDG

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2013English

Factor VIII and vWF Deficiency in STT3A-CDG

Journal of Inherited Metabolic Disease
Genetics
2019English

Inherited Glycosylphosphatidyl Inositol Deficiency: A Treatable CDG

Biochimica et Biophysica Acta - Molecular Basis of Disease
Molecular MedicineMolecular Biology
2009English

Cerebellar Atrophy in Epileptic Patients

Canadian Journal of Neurological Sciences
MedicineNeurology
1988English

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