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Testing Modalities for Inborn Errors of Metabolism — What a Clinician Needs to Know?

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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

Klaver, E. J., Dukes‐Rimsky, L., Kumar, B. N., Xia, Z., Dang, T., Lehrman, M. A., Angel, P. M., Drake, R. R., Freeze, H. H., Steet, R., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.153474 · Cited by 10

Speciation of Aluminium in Human Serum Investigated by HPLC/High Resolution Inductively Coupled Plasma Mass Spectrometry (HR-ICP-MS): Effects of Sialic Acid Residues of the Carbohydrate Chain on the Binding Affinity of Aluminium for Transferrin

Nagaoka, M. H., & Maitani, T. (2009) · Eisei kagaku · doi:10.1248/jhs.55.161 · Cited by 10

Oligosaccharide structures of immunoglobulin G from two patients with carbohydrate-deficient glycoprotein syndrome

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The reliability of the use of para toluene sulfonic acid for simultaneous hydrolysis and quantitation of both N-acetyl-glucosamine and amino acids in human transferrins

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Evaluation of the use of beta-sitostanol as a nonabsorbable marker for quantifying cholesterol absorption.

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Glycosphingolipids in congenital disorders of glycosylation (CDG)

Pedrayes, A. J., Rymen, D., Ghesquière, B., & Witters, P. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108434 · Cited by 8

Congenital Disorders of Glycosylation

Jaeken, J., & van den Heuvel, L. (2014) · Springer eBooks · doi:10.1007/978-3-642-40337-8_30 · Cited by 8

Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells

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Chapter 16a Carbohydrate-deficient glycoprotein syndrome

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A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis

Sun, W., Jin, X., & Zhu, X. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1402883 · Cited by 7

Proteinglycosylierung, konserviert von der Bäckerhefe bis zum Menschen: Ein Modellorganismus hilft bei der Aufklärung menschlicher Erbkrankheiten

Lehle, L., Strahl, S., & Tanner, W. (2006) · Angewandte Chemie · doi:10.1002/ange.200601645 · Cited by 7

Evaluation of serum percent trisialotransferrin as potential predictive biomarker of hepatocellular dedifferentiation in chronic liver disease

Gressner, O. A., Jafari, S., Erkens, M., Gao, C., Stanzel, S. F., & Gressner, A. M. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2009.02.017 · Cited by 7

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples

Wolking, A. B., Park, J. H., Grüneberg, M., Reunert, J., Fingerhut, R., Fobker, M., & Marquardt, T. (2019) · Journal of Chromatography B · doi:10.1016/j.jchromb.2019.01.004 · Cited by 7

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Millón, M. B. B., Delgado, M. A., Azar, N. B., Guelbert, N. B., Sturiale, L., Garozzo, D., Matthijs, G., Jaeken, J., de Kremer, R. D., & Asteggiano, C. (2011) · JIMD Reports · doi:10.1007/8904_2011_18 · Cited by 7

On Saraiva and Baraitser and Joubert syndrome: A review

di Rocco, M. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460630 · Cited by 7

Coagulation abnormalities and vascular complications are common in PGM1-CDG

Radenkovic, S., Bleukx, S., Engelhardt, N. M., Eklund, E. A., Mercimek‐Andrews, S., Edmondson, A. C., & Morava, É. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108530 · Cited by 6

Glycan-related genes and genetic disorders

Togayachi, A., Angata, K., & Nishihara, S. (2026) · Journal of Human Genetics · doi:10.1038/s10038-026-01463-0 · Cited by 6

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Lipiński, P., Jurkiewicz, D., Ciara, E., Płoski, R., Więcek, S., Bogdańska, A., Stradomska, T. J., Socha, P., Rokicki, D., Tylki‐Szymańska, A., et al. (2020) · Acta Biochimica Polonica · doi:10.18388/abp.2020_5202 · Cited by 6

Movement Disorders and Inherited Metabolic Disorders

(2020) · Cambridge University Press eBooks · doi:10.1017/9781108556767 · Cited by 6

Carbohydrate 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

The carbohydrate deficient glycoprotein syndrome in three Japanese children

Ohno, K., Yuasa, I., Akaboshi, S., Itoh, M., Yoshida, K., Ehara, H., Ochiai, Y., & Takeshita, K. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80276-2 · Cited by 54

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

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

Wada, Y., Nishikawa, A., Okamoto, N., Inui, K., Tsukamoto, H., Okada, S., & Taniguchi, N. (1992) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(92)92278-6 · Cited by 130

A Neurodystrophic Syndrome Resembling Carbohydrate-Deficient Glycoprotein Syndrome Type III

Stibler, H., Gylje, H., & Uller, A. (1999) · Neuropediatrics · doi:10.1055/s-2007-973466 · Cited by 7