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Publications by Celia Pérez-Cerdá
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
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
American Journal of Human Genetics
Genetics
Related publications
Pmm2-CDG
Child Neurology: A Case of PMM2-CDG (CDG 1a) Presenting With Unusual Eye Movements
Neurology
Neurology
Erratum To: What Is New in CDG?
Journal of Inherited Metabolic Disease
Genetics
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
An Aci I Polymorphism in the 3′ Untranslated Region of the Human Phosphomannomutase 2 ( PMM2 ) Gene
Journal of Human Genetics
Genetics
Socio-Emotional Problems in Children With CDG
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Factor VIII and vWF Deficiency in STT3A-CDG
Journal of Inherited Metabolic Disease
Genetics
Inherited Glycosylphosphatidyl Inositol Deficiency: A Treatable CDG
Biochimica et Biophysica Acta - Molecular Basis of Disease
Molecular Medicine
Molecular Biology
Cerebellar Atrophy in Epileptic Patients
Canadian Journal of Neurological Sciences
Medicine
Neurology
