Celia
Medrano Rodriguez
Argitalpenak (8) Celia Medrano Rodriguez argitalpenak
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
2017
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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Journal of Pediatrics, Vol. 183, pp. 170-177.e1
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DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress
PLoS ONE, Vol. 12, Núm. 6
2016
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 310-321
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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043
2015
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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48
2013
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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
Journal of Inherited Metabolic Disease, Vol. 36, Núm. 3, pp. 535-542
2011
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics, Vol. 12, Núm. 3, pp. 183-191