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Congenital Disorders of N-linked Glycosylation
Marc C. Patterson
Neurology
Research output
:
Chapter in Book/Report/Conference proceeding
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Chapter
1
Scopus citations
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Medicine & Life Sciences
Congenital Disorders of Glycosylation
100%
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
80%
Glycosylation
66%
phosphomannomutase
18%
carbohydrate-deficient transferrin
16%
Lipodystrophy
14%
Retinitis Pigmentosa
13%
Phenotype
12%
Gastrointestinal Diseases
11%
Eye Diseases
11%
Neurologic Manifestations
10%
Intellectual Disability
10%
Atrophy
9%
Nervous System
8%
Heart Diseases
8%
Seizures
8%
Stroke
7%
Enzymes
5%
Kidney
5%
Therapeutics
1%