 Congenital Disorders of Glycosylation
"Congenital Disorders of Glycosylation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
| Descriptor ID |
D018981
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| MeSH Number(s) |
C16.320.565.202.125 C18.452.648.202.125
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| Concept/Terms |
Congenital Disorders of Glycosylation- Congenital Disorders of Glycosylation
- Glycoprotein Syndrome, Carbohydrate-Deficient
- Carbohydrate-Deficient Glycoprotein Syndrome
- Carbohydrate Deficient Glycoprotein Syndrome
- Carbohydrate-Deficient Glycoprotein Syndromes
- Syndrome, Carbohydrate-Deficient Glycoprotein
- Syndromes, Carbohydrate-Deficient Glycoprotein
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Below are MeSH descriptors whose meaning is more general than "Congenital Disorders of Glycosylation".
Below are MeSH descriptors whose meaning is more specific than "Congenital Disorders of Glycosylation".
This graph shows the total number of publications written about "Congenital Disorders of Glycosylation" by people in this website by year, and whether "Congenital Disorders of Glycosylation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 | | 1996 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Congenital Disorders of Glycosylation" by people in Profiles.
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Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
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Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol. 1996 Oct; 243(10):700-5.
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Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995 Dec; 80(12):3744-9.
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