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Screening for 'prelysosomal disorders': Carbohydrate-deficient glycoprotein syndromes
Marc C. Patterson
Neurology
Research output
:
Contribution to journal
›
Article
›
peer-review
19
Scopus citations
Overview
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Dive into the research topics of 'Screening for 'prelysosomal disorders': Carbohydrate-deficient glycoprotein syndromes'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Congenital Disorders of Glycosylation
100%
Cerebellar Hypoplasia
65%
Glycosylation
44%
Congenital disorder of glycosylation type 1A
39%
phosphomannomutase
37%
lipid-linked oligosaccharides
32%
Inborn Errors Metabolism
27%
Glycoconjugates
27%
Physicians
27%
Mitochondrial Diseases
26%
Asparagine
26%
Endocrine System
26%
Amides
25%
Golgi Apparatus
24%
Transferrin
23%
Neurologic Manifestations
21%
Cytosol
20%
Organelles
20%
Endoplasmic Reticulum
20%
Glycoproteins
18%
Liver Diseases
18%
Protein Isoforms
17%
Seizures
16%
Heart
13%
Phenotype
12%
Mutation
12%
Enzymes
11%