A new variant of the carbohydrate deficient glycoproteins syndrome

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

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

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

Jaeken, 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

Micro Anion Exchange Chromatography of Carbohydrate‐Deficient Transferrin in Serum in Relation to Alcohol Consumption (Swedish Patent8400587–5)

Stibler, H., Borg, S., & Joustra, M. (1986) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.1986.tb05138.x · Cited by 261

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

SPONTANEOUS 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

A Newly Recognized Inherited Neurological Disease with Carbohydrate Deficient Secretory Glycoproteins

Jaeken, J., & Stibler, H. (1989) · doi:10.1007/978-1-349-10729-2_7 · Cited by 37

Biological roles of glycans

Varki, A. (2017) · Glycobiology · doi:10.1093/glycob/cww086 · Cited by 2,635

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

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

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Jaeken, 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

Congenital Disorders of Glycosylation

Jaeken, J., & Matthijs, G. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.129 · Cited by 189

CDG nomenclature: Time for a change!

Jaeken, J., Hennet, T., Matthijs, G., & Freeze, H. H. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2009.08.005 · Cited by 172

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.

Tan, J., Dunn, J., Jaeken, J., & Schachter, H. (1996) · PubMed · Cited by 156

Congenital disorders of glycosylation (CDG): It's all in it!

Jaeken, J. (2003) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1024431131208 · Cited by 142

The carbohydrate‐deficient glycoprotein syndromes: An overview

Jaeken, J., & Carchon, H. A. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00714272 · Cited by 142

Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders

Hagberg, B. A., Gösta Blennow, A., KRISTIANSSON, B., & Stibler, H. (1993) · Pediatric Neurology · doi:10.1016/0887-8994(93)90060-p · Cited by 137

Carbohydrate-deficient Glycoprotein Syndrome

Krasnewich, D. M., & Gahl, W. A. (1997) · Advances in Pediatrics · doi:10.1016/s0065-3101(24)00050-1 · Cited by 101

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Burda, P., Borsig, L., Andel, J. F. D. R.-V., Wevers, R. A., Jaeken, J., Carchon, H. A., Berger, E. G., & Aebi, M. (1998) · Journal of Clinical Investigation · doi:10.1172/jci2266 · Cited by 99

Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic

Damen, G. M., de Klerk, H., Huijmans, J. G. M., den Hollander, J., & Sinaasappel, M. (2004) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1002/j.1536-4801.2004.tb12163.x · Cited by 88

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

Horslen, S. P., Clayton, P. T., Harding, B. N., Hall, N. A., Keir, G., & WINCHESTER, B. G. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.9.1027 · Cited by 86

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Stibler, H., Blennow, G., KRISTIANSSON, B., Lindehammer, H., & Hagberg, B. A. (1994) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.57.5.552 · Cited by 83

Carbohydrate-deficient Glycoprotein Syndrome Type II. An Autosomal Recessive N-acetylglucosaminyltransferase II Deficiency Different from Typical Hereditary Erythroblastic Multinuclearity, with a Positive Acidified-serum Lysis Test (HEMPAS)

Charuk, J. H. M., Tan, J., Bernardini, M., Haddad, S., Reithmeier, R. A. F., Jaeken, J., & Schachter, H. (1995) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1995.0797h.x · Cited by 80

Congenital disorders involving defective N-glycosylation of proteins

Schachter, H. (2001) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000923 · Cited by 77

Carbohydrate-Deficient Glycoprotein Syndromes: Inborn Errors of Protein Glycosylation

Keir, G., WINCHESTER, B. G., & Clayton, P. T. (1999) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/000456329903600103 · Cited by 70

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Monticelli, M., Ferro, T., Jaeken, J., Ferreira, V. D. R., & Videira, P. A. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9954-9 · Cited by 69

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

Powell, L. D., Panneerselvam, K., Vij, R., Diaz, S. L., Manzi, A. E., Buist, N. R. M., Freeze, H. H., & Varki, A. P. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117540 · Cited by 67

Genotypes and phenotypes of patients in the UK with carbohydrate‐deficient glycoprotein syndrome type 1

Imtiaz, F., Worthington, V., Champion, M., Beesley, C. E., Charlwood, J., Clayton, P. T., Keir, G., Mian, N., & WINCHESTER, B. G. (2000) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005669900330 · Cited by 64

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

Séta, N., Barnier, A., Hochedez, F., Besnard, M., & Durand, G. (1996) · Clinica Chimica Acta · doi:10.1016/0009-8981(96)06379-6 · Cited by 64

Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.

Cylwik, B., Lipartowska-Klimuk, K., Chrostek, L., & Gruszewska, E. (2013) · Acta Biochimica Polonica · doi:10.18388/abp.2013_1993 · Cited by 61

Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndrome

KRISTIANSSON, B., Stibler, H., & WIDE, L. E. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13720.x · Cited by 57

Congenital Disorders of Glycosylation: Glycosylation Defects in Man and Biological Models for Their Study

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New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and Their Impact on the Endocrine System

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Carbohydrate-deficient glycoprotein syndrome type II

Schachter, H., & Jaeken, J. (1999) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(99)00054-x · Cited by 48

Localized Proton Magnetic Resonance Spectroscopy of Brain Disorders in Childhood

Frahm, J., & Hanefeld, F. A. (1997) · Springer eBooks · doi:10.1007/978-1-4615-5863-7_13 · Cited by 47

Genetic and metabolic liver disease

Thompson, R. J., Portmann, B. C., & Roberts, E. A. (2011) · Elsevier eBooks · doi:10.1016/b978-0-7020-3398-8.00004-0 · Cited by 43

Carbohydrate‐deficient glycoprotein syndrome type II

Jaeken, J., Cock, P. D., Stibler, H., Geet, C. V., Kint, J. A., Ramaekers, V. T., & Carchon, H. A. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711522 · Cited by 40

Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins

Yuasa, I., Ohno, K., Hashimoto, K., Iijima, K., Yamashita, K., & Takeshita, K. (1995) · Brain and Development · doi:10.1016/0387-7604(94)00099-j · Cited by 38

Carbohydrate-deficient glycoconjugate (CDG) syndromes: A new chapter of neuropaediatrics

Jaeken, J., & CASAER, P. (1997) · European Journal of Paediatric Neurology · doi:10.1016/s1090-3798(97)80015-3 · Cited by 36

Carbohydrate-deficient glycoprotein syndromes

Gordon, N. S. (2000) · Postgraduate Medical Journal · doi:10.1136/pmj.76.893.145 · Cited by 32

Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I

Macchia, P. E., Harrison, H. H., Scherberg, N. H., Sunthornthepfvarakul, T., Jaeken, J., & Refetoff, S. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.12.8530628 · Cited by 28

Decreased blood coagulation activities in carbohydrate‐deficient glycoprotein syndrome

Okamoto, N., Wada, Y., Kobayashi, M., Otani, K., Tagawa, T., Futagi, Y., Imayoshi, Y., Hayashi, A., Shimizu, A., & Kato, Y. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00710294 · Cited by 25

Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate‐deficient glycoprotein syndrome

Holzbach, U., Hanefeld, F. A., Helms, G., Hänicke, W., & Frahm, J. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13756.x · Cited by 23

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

Veneselli, E., Biancheri, R., Rocco, M. D., & Tortorelli, S. (1998) · European Journal of Paediatric Neurology · doi:10.1016/s1090-3798(98)80037-8 · Cited by 15

Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation

Cohn, R. D., Eklund, E. A., Bergner, A. L., Casella, J. F., Woods, S., Althaus, J., Blakemore, K. J., Fox, H. E., Hoover-Fong, J. E., Hamosh, A., et al. (2006) · PEDIATRICS · doi:10.1542/peds.2005-1307 · Cited by 15

Immune dysfunction in MGAT2‐CDG : A clinical report and review of the literature

Poskanzer, S. A., Schultz, M., Turgeon, C. T., Vidal‐Folch, N., Liedtke, K., Oglesbee, D., Gavrilov, D. K., Tortorelli, S., Matern, D., Rinaldo, P., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61914 · Cited by 14

Biochemical diagnosis of congenital disorders of glycosylation

Raynor, A., Haouari, W., Lebredonchel, E., Foulquier, F., Fenaille, F., & Bruneel, A. (2024) · Advances in clinical chemistry · doi:10.1016/bs.acc.2024.03.001 · Cited by 13

Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

Ferrari, M., Parini, R., Rocco, M. D., Radetti, G., Beck‐Peccoz, P., & Persani, L. (2001) · European Journal of Endocrinology · doi:10.1530/eje.0.1440409 · Cited by 13

Chapter 16b Carbohydrate-deficient glycoprotein syndrome

Jaeken, J., Spik, G., & Schachter, H. (1996) · New comprehensive biochemistry · doi:10.1016/s0167-7306(08)60303-8 · Cited by 13

Congenital disorders of glycosylation

Ivanov, D. O., Новикова, В. П., & Похлебкина, А. А. (2018) · Pediatrician (St Petersburg) · doi:10.17816/ped935-15 · Cited by 12

MGAT2 deficiency (CDG-IIa): The Life of J.

Cock, P. D., & Jaeken, J. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2009.02.001 · Cited by 10

Defective Glycosyltransferases are Not Good for Your Health

Schachter, H., Tan, J., Sarkar, M., Betty, Y. I. P., Chen, S., Dunn, J., & Jaeken, J. (1998) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-5383-0_2 · Cited by 8

Carbohydrate‐deficient glycoprotein syndrome type 2

Engelhardt, H. T., Staudt, M., Hässler, A., Holzbach, U., Freisinger, P., & Krägeloh‐Mann, I. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005422610091 · Cited by 7

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Mahajan, S., Ng, B. G., AlAbdi, L., Earnest, P. D. J., Sosicka, P., Patel, N., Helaby, R., Abdulwahab, F., He, M., Alkuraya, F. S., et al. (2022) · Journal of Medical Genetics · doi:10.1136/jmg-2022-108821 · Cited by 6

Movement Disorders and Inherited Metabolic Disorders

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

Defectos congénitos de la glucosilación: últimos avances y experiencia española

Vilaseca, M. A., Artuch, R., & Briones, P. (2004) · Medicina Clínica · doi:10.1016/s0025-7753(04)74362-6 · Cited by 6

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation

Wada, Y. (2025) · Mass Spectrometry · doi:10.5702/massspectrometry.a0169 · Cited by 3

Carbohydrate deficient glycoprotein syndrome type I: A cause of cerebellar vermis hypoplasia

Worthington, S., Arbuckle, S. M., NELSON, P., CAREY, W., Lipson, A., & Pagan, E. R. (1997) · Journal of Paediatrics and Child Health · doi:10.1111/j.1440-1754.1997.tb01665.x · Cited by 3

Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis

Jaeken, J. (2000) · Springer eBooks · doi:10.1007/978-3-662-04285-4_38 · Cited by 3

MGAT2‐CDG (CDG‐IIa) and dysmorphism

Jaeken, J. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35314 · Cited by 1

Des maladies du réticulum endoplasmique et de l'appareil de Golgi: les déficits de glycosylation des glycoprotéines

Vidailhet, M. (1995) · Archives de Pédiatrie · doi:10.1016/0929-693x(96)81192-4 · Cited by 1

Congenital Disorders of Glycosylation (CDG) – CDG-Krankheiten

Tegtmeyer, L. C., & Marquardt, T. (2014) · Springer eBooks · doi:10.1007/978-3-642-45188-1_18

Congenital Disorder of Glycosylation (CDG)-IIc: Eine retrovirale Expressionsklonierung identifiziert das CDG-IIc Syndrom (Leukozyten Adhäsionsdefekt II) als eine GDP-Fukose Transporter Defizienz

Lübke, T. (2001) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-69

Carbohydrate-Deficient Glycoprotein Syndromes

Jaeken, J. (1995) · Springer eBooks · doi:10.1007/978-3-662-03147-6_38

Branching Out: Constructing The Antennae Of N-Linked Sugars

Bill, R. M., Revers, L., & Wilson, I. B. H. (1998) · Springer eBooks · doi:10.1007/978-1-4615-4939-0_5

Eine retrovirale Expressionsklonierung identifiziert das CDG-IIc Syndrom (Leukozyten Adhäsionsdefekt II) als eine GDP-Fukose Transporter Defizienz

Lübke, T. (2001)

References

(1995) · Elsevier eBooks · doi:10.1016/b978-012165250-0/50023-4

Congenital Disorder of Glycosylation (CDG) - Ih

Thiel, C. (2003) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-597

Diagnostic biochimique des désordres congénitaux de la glycosylation

Raynor, A., Fenaille, F., Lebredonchel, E., Foulquier, F., & Bruneel, A. (2025) · EMC - Biologie Médicale · doi:10.1016/s2211-9698(25)48375-7

Analyses structurales et métaboliques de la sialylation des vertébrés

Vanbeselaere, J. (2013) · theses.fr (ABES) · doi:10.70675/f5ca88c1z90fdz4a02z94f0z2d244d6dbf4b

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients

Abdel‐Hamid, M. S., Abdel‐Ghafar, S. F., Issa, M. Y., Elnaggar, W., Elbendary, H. M., Rafat, K., Gaboon, N. E. A., Noureldeen, M. M., Rezk, Z. N., Elkhateeb, N. M., et al. (2026) · Human Genetics · doi:10.1007/s00439-026-02881-y

Carbohydrate‐deficient glycoprotein syndrome type II

Jaeken, J., Cock, P. D., Stibler, H., Geet, C. V., Kint, J. A., Ramaekers, V. T., & Carchon, H. A. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711522 · Cited by 40

[Carbohydrate deficient glycoprotein syndromes].

LUDER, A. S., Klein, O. H., Eshel, B., & Daji-Gotfried, O. (1999) · PubMed

Carbohydrate‐deficient glycoprotein syndrome type 2

Engelhardt, H. T., Staudt, M., Hässler, A., Holzbach, U., Freisinger, P., & Krägeloh‐Mann, I. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005422610091 · Cited by 7

Retrospective diagnosis of carbohydrate‐deficient glycoprotein syndrome type Ib

Neele, D. M., Kneepkens, C. M. F., Verhoeven‐Duif, N. M., & Jakobs, C. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005699725822 · Cited by 2

Carbohydrate‐deficient glycoprotein syndromes: The Italian experience

Rocco, M. D., Barone, R. M. E., Adami, A. L., Burlina, A., Carrozzi, M., Dionisi‐Vici, C., Gatti, R., Iannetti, P., Parini, R., Raucci, U., et al. (2000) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005608019977 · Cited by 16