The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
A new variant of the carbohydrate deficient glycoproteins syndrome
Abstract
peer reviewed
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Citations
Cites
Jaeken, J., Vanderschueren‐Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., & Eeckels, R. (1980) · Pediatric Research · doi:10.1203/00006450-198002000-00117 · Cited by 287
Self-citationJaeken, J., van Eijk, H. G., van der Heul, C., Corbeel, L., Eeckels, R., & Eggermont, E. (1984) · Clinica Chimica Acta · doi:10.1016/0009-8981(84)90059-7 · Cited by 280
Self-citationStibler, H., Borg, S., & Joustra, M. (1986) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.1986.tb05138.x · Cited by 261
Self-citationCarbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
Stibler, H., & Jaeken, J. (1990) · Archives of Disease in Childhood · doi:10.1136/adc.65.1.107 · Cited by 151
Self-citationSPONTANEOUS RUPTURE OF SPLEEN FOLLOWING STREPTOKINASE THERAPY
Gardner-Medwin, J. M., Sayer, J. A., Mahida, Y. R., & Spiller, R. E. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92009-6 · Cited by 76
Disialotransferrin developmental deficiency syndrome.
KRISTIANSSON, B., Andersson, M., Tonnby, B., & Hagberg, B. A. (1989) · Archives of Disease in Childhood · doi:10.1136/adc.64.1.71 · Cited by 74
AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINS
Jaeken, J., Eggermont, E., & Stibler, H. (1987) · The Lancet · doi:10.1016/s0140-6736(87)91287-6 · Cited by 52
Self-citationJaeken, J., & Stibler, H. (1989) · doi:10.1007/978-1-349-10729-2_7 · Cited by 37
Self-citation
Research works printed but not linked: 1
- Jaeken J., 1990, Vth International Congress Inborn Errors of Metabolism
Cited by
Sorted by citations
Varki, A. (2017) · Glycobiology · doi:10.1093/glycob/cww086 · Cited by 2,635
Marquardt, T., & Denecke, J. (2003) · European Journal of Pediatrics · doi:10.1007/s00431-002-1136-0 · Cited by 287
Congenital Disorders of Glycosylation
Patterson, M. C. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780199937837.003.0066 · Cited by 212
Congenital Disorders of Glycosylation: A Review
Grünewald, S., Matthijs, G., & Jaeken, J. (2002) · Pediatric Research · doi:10.1203/00006450-200211000-00003 · Cited by 212
Self-citationJaeken, J., Schachter, H., Carchon, H. A., Cock, P. D., Coddeville, B., & Spik, G. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.2.123 · Cited by 191
Self-citation
Metadata
- Authors
- Ramaekers, V. T., Stibler, H., Kint, J., & Jaeken, J.
- Affiliations
- RWTH Aachen University (DE)
- Karolinska Institutet (SE)
- Ghent University (BE)
- KU Leuven (BE)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1991-05
- Volume
- 14
- Issue
- 3
- Pages
- 385-388
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1970632125
- Cited by
- 66
- References
- 8
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2022: 1 · 2020: 2 · 2018: 1 · 2017: 1 · 2016: 2 · 2014: 1 · 2013: 1 · 2012: 1
- FWCI
- 2.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- ORBi (University of Liège) (submittedVersion)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- congenital disorders of glycosylation, inborn errors of metabolism
- MeSH terms
- Carbohydrate Metabolism, Inborn Errors, Electromyography, Evoked Potentials, Female, Galactosemias, Glycoproteins, Hexosamines, Humans, Infant, Isoelectric Focusing, Liver, Magnetic Resonance Imaging, Mannose, Sialic Acids, Transferrin
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