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1.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26833332
2.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet
; 95(5): 615-626, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30653653
3.
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
J Pediatr
; 183: 170-177.e1, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28139241
4.
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Genet Med
; 18(10): 1037-43, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26913919
5.
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
J Inherit Metab Dis
; 36(3): 535-42, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22976764
6.
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Neurogenetics
; 12(3): 183-91, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21431957
7.
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
PLoS One
; 12(6): e0179456, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28662078
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