What is new in CDG?

Symbol Nomenclature for Graphical Representations of Glycans

Varki, A. P., Cummings, R. D., Aebi, M., Packer, N. H., Seeberger, P. H., Esko, J. D., Stanley, P., Hart, G. W., Darvill, A. G., Kinoshita, T., et al. (2015) · Glycobiology · doi:10.1093/glycob/cwv091 · Cited by 1,060 · see citing works

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.004 · Cited by 475 · see citing works

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Park, J. H., Hogrebe, M., Grüneberg, M., Chesne, I. D., von der Heiden, A., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.003 · Cited by 315 · see citing works

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Freeze, H. H., Chong, J. X., Bamshad, M. J., & Ng, B. G. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.10.024 · Cited by 264 · see citing works

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Zhang, Y., Yu, X., Ichikawa, M., Lyons, J. J., Datta, S., Lamborn, I. T., Jing, H., Kim, E. S., Biancalana, M., Wolfe, L. A., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.02.013 · Cited by 247 · see citing works

Neurological Aspects of Human Glycosylation Disorders

Freeze, H. H., Eklund, E. A., Ng, B. G., & Patterson, M. C. (2015) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071714-034019 · Cited by 243 · see citing works

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Boycott, K. M., Beaulieu, C. L., Kernohan, K. D., Gebril, O. H., Mhanni, A. A., Chudley, A. E., Redl, D., Qin, W., Hampson, S., Küry, S., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.002 · Cited by 238 · see citing works

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

Kanagawa, M., Kobayashi, K., Tajiri, M., Manya, H., Kuga, A., Yamaguchi, Y., Akasaka‐Manya, K., Furukawa, J., Mizuno, M., Kawakami, H., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.02.017 · Cited by 226 · see citing works

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

Sassi, A., Lazaroski, S., Wu, G., Haslam, S. M., Fliegauf, M., Mellouli, F., Patıroğlu, T., Ünal, E., Özdemir, M. A., Jouhadi, Z., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.02.025 · Cited by 197 · see citing works

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Stray‐Pedersen, A., Backe, P. H., Sorte, H. S., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.007 · Cited by 184 · see citing works

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 · see citing works

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics · doi:10.1038/ng.3578 · Cited by 164 · see citing works

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Basmanav, F. B., Oprişoreanu, A., Pasternack, S. M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C. R., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.12.003 · Cited by 154 · see citing works

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Jansen, E. J. R., Timal, S., Ryan, M., Ashikov, A., van Scherpenzeel, M., Graham, L. A., Mandel, H., Hoischen, A., Iancu, T. C., Raymond, K., et al. (2016) · Nature Communications · doi:10.1038/ncomms11600 · Cited by 149 · see citing works

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Gerin, I., Ury, B., Breloy, I., Bouchet-Séraphin, C., Bolsée, J., Halbout, M., Graff, J., Vertommen, D., Muccioli, G. G., Séta, N., et al. (2016) · Nature Communications · doi:10.1038/ncomms11534 · Cited by 145 · see citing works

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Lam, C. T., Ferreira, C. R., Krasnewich, D. M., Toro, C., Latham, L. L., Zein, W. M., Lehky, T., Brewer, C. C., Baker, E. H., Thurm, A. E., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.75 · Cited by 142 · see citing works

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Park, E. J., Grabińska, K. A., Guan, Z., Stránecký, V., Hartmannová, H., Hodaňová, K., Barešová, V., Sovová, J., József, L., Ondrušková, N., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.06.016 · Cited by 139 · see citing works

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Ng, B. G., Buckingham, K. J., Raymond, K., Kircher, M., Turner, E. H., He, M., Smith, J. D., Eroshkin, A. M., Szybowska, M., Losfeld, M. E., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.012 · Cited by 132 · see citing works

CADmutations and uridine-responsive epileptic encephalopathy

Koch, J., Mayr, J. A., Alhaddad, B., Rauscher, C., Bierau, J., Kovács-Nagy, R., Coene, K. L. M., Bader, I., Holzhacker, M., Prokisch, H., et al. (2016) · Brain · doi:10.1093/brain/aww300 · Cited by 128 · see citing works

Congenital disorders of glycosylation: new defects and still counting

Scott, K. M., Gadomski, T., Kozicz, T., et al. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9720-9 · Cited by 125 · see citing works

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Bögershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.05.028 · Cited by 118 · see citing works

Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction

Hennet, T., & Cabalzar, J. (2015) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2015.03.002 · Cited by 117 · see citing works

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

Praissman, J. L., Willer, T., Sheikh, M. O., et al. (2016) · eLife · doi:10.7554/elife.14473 · Cited by 117 · see citing works

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Damme, T. V., Gardeitchik, T., Mohamed, M., Guerrero‐Castillo, S., Freisinger, P., Guillemyn, B., Kariminejad, A., Dalloyaux, D., van Kraaij, S. A. W., Lefeber, D. J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.12.010 · Cited by 114 · see citing works

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Kodera, H., Nakamura, K., Osaka, H., Maegaki, Y., Haginoya, K., Mizumoto, S., Kato, M., Okamoto, N., Iai, M., Kondo, Y., et al. (2013) · Human Mutation · doi:10.1002/humu.22446 · Cited by 111 · see citing works

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T., & Murakami, Y. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102156 · Cited by 108 · see citing works

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Servián‐Morilla, E., Takeuchi, H., Lee, T. V., Clarimón, J., Mavillard, F., Área-Gómez, E., Rivas, E., Nieto-González, J. L., Rivero, M., Cabrera‐Serrano, M., et al. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201505815 · Cited by 108 · see citing works

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Morava, É. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.06.002 · Cited by 101 · see citing works

Cohen syndrome is associated with major glycosylation defects

Duplomb, L., Duvet, S., Picot, D., Jégo, G., Chehadeh, S. E., Marle, N., Gigot, N., Aral, B., Carmignac, V., Thévenon, J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt630 · Cited by 100 · see citing works

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jansen, J. C., Çırak, S., van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., Pérez, B., Vicogne, D., Krawitz, P. M., Wada, Y., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.010 · Cited by 99 · see citing works

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jansen, J. C., Timal, S., van Scherpenzeel, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.011 · Cited by 91 · see citing works

A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): molecular basis, clinical phenotype, and therapeutic approach

Dörre, K., Olczak, M., Wada, Y., Sosicka, P., Grüneberg, M., Reunert, J., Kurlemann, G., Fiedler, B., Biskup, S., Hörtnagel, K., et al. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9828-6 · Cited by 88 · see citing works

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Ng, B. G., Wolfe, L. A., Ichikawa, M., Markello, T. C., He, M., Tifft, C. J., Gahl, W. A., & Freeze, H. H. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv057 · Cited by 86 · see citing works

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Makrythanasis, P., Kato, M., Zaki, M. S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.007 · Cited by 86 · see citing works

The genotypic and phenotypic spectrum of PIGA deficiency

Tarailo‐Graovac, M., Sinclair, G. B., Stöckler‐Ipsiroglu, S., Allen, M. I. V., Rozmus, J., Shyr, C., Biancheri, R., Oh, T., Sayson, B., Lafek, M., et al. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0243-8 · Cited by 85 · see citing works

The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan

Manya, H., Yamaguchi, Y., Kanagawa, M., Kobayashi, K., Tajiri, M., Akasaka‐Manya, K., Kawakami, H., Mizuno, M., Wada, Y., Toda, T., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.751917 · Cited by 83 · see citing works

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

Riemersma, M., Froese, D. S., van Tol, W., Engelke, U. F. H., Kopec, J., van Scherpenzeel, M., Ashikov, A., Krojer, T. J., von Delft, F., Tessari, M., et al. (2015) · Chemistry & Biology · doi:10.1016/j.chembiol.2015.10.014 · Cited by 82 · see citing works

Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement

Barone, R. M. E., Fiumara, A., & Jaeken, J. (2014) · Seminars in Neurology · doi:10.1055/s-0034-1387197 · Cited by 80 · see citing works

Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

van Scherpenzeel, M., Willems, E., & Lefeber, D. J. (2016) · Glycoconjugate Journal · doi:10.1007/s10719-015-9639-x · Cited by 80 · see citing works

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Ilkovski, B., Pagnamenta, A. T., O’Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D. O., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv331 · Cited by 72 · see citing works

Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function

Climer, L. K., Dobretsov, M. G., & Lupashin, V. V. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00405 · Cited by 71 · see citing works

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 · see citing works

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

Losfeld, M., Ng, B. G., Kircher, M., Buckingham, K. J., Turner, E. H., Eroshkin, A. M., Smith, J. D., Shendure, J., Nickerson, D. A., Bamshad, M. J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt550 · Cited by 68 · see citing works

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

Zhang, W., James, P. M., Ng, B. G., et al. (2015) · Clinical Chemistry · doi:10.1373/clinchem.2015.243279 · Cited by 68 · see citing works

Gain-of-glycosylation mutations

Vogt, G., Vogt, B., Chuzhanova, N., Julenius, K., Cooper, D. N., & Casanova, J.-L. (2007) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2007.04.008 · Cited by 67 · see citing works

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

Liang, W., Zhu, W., Mitsuhashi, S., et al. (2015) · Skeletal Muscle · doi:10.1186/s13395-015-0056-4 · Cited by 63 · see citing works

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

de la Morena‐Barrio, M. E., Martínez‐Martínez, I., de Cos, C., Wypasek, E., Roldán, V., Undas, A., van Scherpenzeel, M., Lefeber, D. J., Toderici, M., Sevivas, T. S., et al. (2016) · Journal of Thrombosis and Haemostasis · doi:10.1111/jth.13372 · Cited by 59 · see citing works

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Sabry, S., Vuillaumier‐Barrot, S., Mintet, E., Fasseu, M., Valayannopoulos, V., Héron, D., Dorison, N., Mignot, C., Séta, N., Chantret, I., et al. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0468-1 · Cited by 59 · see citing works

Skin manifestations in CDG

Rymen, D., & Jaeken, J. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9678-7 · Cited by 56 · see citing works

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Koehler, K., Milev, M. P., Prematilake, K., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104108 · Cited by 55 · see citing works

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

Argov, Z., Caraco, Y., Lau, H., Pestronk, A., Shieh, P. B., Skrinar, A. M., Koutsoukos, T., Ahmed, R., Martinisi, J., & Kakkis, E. (2016) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-159900 · Cited by 53 · see citing works

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Taylan, F., Costantini, A., Coles, N., Pekkinen, M., Héon, E., Şıklar, Z., Berberoğlu, M., Kämpe, A. J., Kıykım, E., Grigelioniené, G., et al. (2016) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2834 · Cited by 53 · see citing works

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

McInerney-Leo, A. M., Harris, J. E., Gattas, M. R., et al. (2016) · Human Mutation · doi:10.1002/humu.22994 · Cited by 50 · see citing works

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, É., Tiemes, V., Thiel, C., et al. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9945-x · Cited by 48 · see citing works

Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability

Edvardson, S., Murakami, Y., Nguyen, T. T. M., Shahrour, M., St-Denis, A., Shaag, A., Damseh, N., Le Deist, F., Bryceson, Y., Abu-Libdeh, B., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104202 · Cited by 47 · see citing works

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Knaus, A., Awaya, T., Helbig, I., et al. (2016) · Human Mutation · doi:10.1002/humu.23006 · Cited by 45 · see citing works

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Matalonga, L., Bravo, M., Serra‐Peinado, C., et al. (2016) · Human Mutation · doi:10.1002/humu.23145 · Cited by 44 · see citing works

Genetic defects in the hexosamine and sialic acid biosynthesis pathway

Willems, A. P., van Engelen, B. G. M., & Lefeber, D. J. (2015) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2015.12.017 · Cited by 43 · see citing works

Genetic defects in dolichol metabolism

Buczkowska, A., Świeżewska, E., & Lefeber, D. J. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9760-1 · Cited by 42 · see citing works

A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2

Fauth, C., Steindl, K., Toutain, A., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37452 · Cited by 41 · see citing works

ALG8-CDG: novel patients and review of the literature

Höck, M., Wegleiter, K., Ralser, E., et al. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0289-7 · Cited by 40 · see citing works

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Tham, E., Eklund, E. A., Hammarsjö, A., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.91 · Cited by 40 · see citing works

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Ng, B. G., Raymond, K., Kircher, M., et al. (2015) · Human Mutation · doi:10.1002/humu.22856 · Cited by 36 · see citing works

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

Lundin, K. E., Hamasy, A., Backe, P. H., et al. (2015) · Clinical Immunology · doi:10.1016/j.clim.2015.10.002 · Cited by 35 · see citing works

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Guo, L. Z., Elcioglu, N. H., Iida, A., et al. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2016.143 · Cited by 34 · see citing works

Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

Smith‐Packard, B., Myers, S. M., & Williams, M. S. (2015) · JIMD Reports · doi:10.1007/8904_2015_416 · Cited by 32 · see citing works

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

Kimizu, T., Takahashi, Y., Oboshi, T., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2016.09.009 · Cited by 30 · see citing works

Serum transferrin carrying the xeno‐tetrasaccharide NeuAc‐Gal‐GlcNAc2 is a biomarker of ALG1‐CDG

Bengtson, P., Ng, B. G., Jaeken, J., et al. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9884-y · Cited by 29 · see citing works

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

Farhan, S. M. K., Wang, J., Robinson, J. F., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103279 · Cited by 29 · see citing works

Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation

Wada, Y. (2016) · Glycoconjugate Journal · doi:10.1007/s10719-015-9636-0 · Cited by 26 · see citing works

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia

Hogrebe, M., Murakami, Y., Wild, M. K., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37950 · Cited by 26 · see citing works

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Kettwig, M., Elpeleg, O. N., Wegener, E., et al. (2016) · BMC Neurology · doi:10.1186/s12883-016-0602-7 · Cited by 25 · see citing works

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23APreprint

Gupta, S., Fahiminiya, S., Wang, T. S., et al. (2016) · Molecular Case Studies · doi:10.1101/mcs.a000737 · Cited by 22 · see citing works

Further Delineation of the ALG9-CDG Phenotype

Alsubhi, S., Alhashem, A. M., Alazami, A. M., et al. (2015) · JIMD Reports · doi:10.1007/8904_2015_504 · Cited by 20 · see citing works

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings

Silveira, C., Leal, G. F., & Cavalcanti, D. P. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37858 · Cited by 20 · see citing works

Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population

Lee, J., Kim, H., Park, Y., et al. (2017) · Ophthalmic Genetics · doi:10.1080/13816810.2016.1232415 · Cited by 19 · see citing works

RFT1‐congenital disorder of glycosylation (CDG) syndrome: a cause of early‐onset severe epilepsy

Aeby, A., Prigogine, C., Vilain, C. N., et al. (2016) · Epileptic Disorders · doi:10.1684/epd.2016.0802 · Cited by 17 · see citing works

Human glycosylation disorders

Krasnewich, D. M. (2014) · Cancer Biomarkers · doi:10.3233/cbm-130374 · Cited by 13 · see citing works

Wrinkled Skin and Fat Pads in Patients with ALG 8‐CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation

Kouwenberg, D., Gardeitchik, T., Mohamed, M., et al. (2013) · Pediatric Dermatology · doi:10.1111/pde.12233 · Cited by 12 · see citing works

Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism

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