This work is licensed under the Creative Commons Attribution 4.0 International License.
Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018;41(3):541–53. doi: 10.1007/s10545-018-0156-5FerreiraCRAltassanRMarques-Da-SilvaDFranciscoRJaekenJMoravaERecognizable phenotypes in CDG20184135415310.1007/s10545-018-0156-5Open DOISearch in Google Scholar
Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, et al. The challenge of CDG diagnosis. Mol Genet Metab. 2019;126(1):1–5. doi: 10.1016/j.ymg-me.2018.11.003FranciscoRMarques-da-SilvaDBrasilSPascoalCDosReis Ferreira VMoravaEet alThe challenge of CDG diagnosis201912611510.1016/j.ymg-me.2018.11.003Open DOISearch in Google Scholar
Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis. 2017;40(4):569–86. doi: 10.1007/s10545-017-0050-6. Erratum in: J Inherit Metab Dis. 2017;40(4):621–5. doi: 10.1007/s10545-017-0068-9JaekenJPéanneRWhat is new in CDG?20174045698610.1007/s10545-017-0050-6Erratum in: J Inherit Metab Dis. 2017;40(4):621–5. doi: 10.1007/s10545-017-0068-9Open DOISearch in Google Scholar
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2018;61(11):643–63. doi: 10.1016/j.ejmg.2017.10.012PéanneRde LonlayPFoulquierFKornakULefeberDJMoravaEet al201861116436310.1016/j.ejmg.2017.10.012Open DOISearch in Google Scholar
Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta. 2009;1792(9):827– 34. doi: 10.1016/j.bbadis.2009.01.003GrünewaldS.The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)200917929827–3410.1016/j.bbadis.2009.01.003Open DOISearch in Google Scholar
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, et al. Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2. J Am Soc Nephrol. 2017;28(8):2529– 39. doi: 10.1681/ASN.2016121312CabezasORFlanaganSEStanescuHGarcía-MartínezECaswellRLango-AllenHet alPolycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 220172882529–3910.1681/ASN.2016121312Open DOISearch in Google Scholar
Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22(2):268–79. doi: 10.1038/s41436-019-0647-2VerheijenJTahataSKoziczTWittersPMoravaETherapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update20202222687910.1038/s41436-019-0647-2Open DOISearch in Google Scholar
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, et al. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Ann Neurol. 2019;85(5):740–51. doi: 10.1002/ana.25457Martínez-MonsenyAFBolasellMCallejón-PóoLCuadrasDFrenicheVItzepDCet alAZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)20198557405110.1002/ana.25457Open DOISearch in Google Scholar
Diaz J, Kane TD, Leon E. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. Am J Med Genet A. 2020;182(3):425–30. doi: 10.1002/ajmg.a.61476DiazJKaneTDLeonEEvidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome202018234253010.1002/ajmg.a.61476Open DOISearch in Google Scholar
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, et al. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis. 2018;13(1):170. doi: 10.1186/s13023-018-0863-xAstreaGRomanoAAngeliniCAntozziCGBarresiRBattiniRet alBroad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study201813117010.1186/s13023-018-0863-xOpen DOISearch in Google Scholar
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain. 2017;140(2):279–86. doi: 10.1093/brain/aww300KochJMayrJAAlhaddadBRauscherCBierauJKovacs-NagyRet alCAD mutations and uridine-responsive epileptic encephalopathy201714022798610.1093/brain/aww300Open DOISearch in Google Scholar
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, et al. The metabolic map into the pathomechanism and treatment of PGM1-CDG. Am J Hum Genet. 2019;104(5):835– 46. doi: 10.1016/j.ajhg.2019.03.003RadenkovicSBirdMJEmmerzaalTLWongSYFelgueiraCStiersKMet alThe metabolic map into the pathomechanism and treatment of PGM1-CDG20191045835–4610.1016/j.ajhg.2019.03.003Open DOISearch in Google Scholar
Jaeken J, Lefeber DJ, Matthijs G. Clinical utility gene card for: PGM3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2019;27(11):1757–60. doi: 10.1038/s41431-019-0453-yJaekenJLefeberDJMatthijsGClinical utility gene card for: PGM3 defective congenital disorder of glycosylation2019271117576010.1038/s41431-019-0453-yOpen DOISearch in Google Scholar
Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, et al. Adams-Oliver syndrome caused by mutations of the EOGT gene. Am J Med Genet A. 2019;179(11):2246–51. doi: 10.1002/ajmg.a.61313SchröderKCDumanDTekinMSchanzeDSukaloMMeesterJet alAdams-Oliver syndrome caused by mutations of the EOGT gene20191791122465110.1002/ajmg.a.61313Open DOISearch in Google Scholar
Pravata VM, Muha V, Gundogdu M, Ferenbach AT, Kakade PS, Vandadi V, et al. Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. Proc Natl Acad Sci USA. 2019;116(30):14961–70. doi: 10.1073/pnas.1900065116PravataVMMuhaVGundogduMFerenbachATKakadePSVandadiVet alCatalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability201911630149617010.1073/pnas.1900065116Open DOISearch in Google Scholar
Lam BL, Züchner SL, Dallman J, Wen R, Alfonso EC, Vance JM, et al. Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. Adv Exp Med Biol. 2014;801:165–70. doi: 10.1007/978-1-4614-3209-8_21LamBLZüchnerSLDallmanJWenRAlfonsoECVanceJMet alMutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa20148011657010.1007/978-1-4614-3209-8_21Open DOISearch in Google Scholar
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, et al. High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101(5):664–85. doi: 10.1016/j.ajhg.2017.09.008HamdanFFMyersCTCossettePLemayPSpiegelmanDLaporteADet alHigh rate of recurrent De Novo mutations in developmental and epileptic encephalopathies201710156648510.1016/j.ajhg.2017.09.008Open DOISearch in Google Scholar
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, et al. ALG1-CDG: clinical and molecular characterization of 39 unreported patients. Hum Mutat. 2016;37(7):653–60. doi: 10.1002/humu.22983NgBGShiryaevSARymenDEklundEARaymondKKircherMet alALG1-CDG: clinical and molecular characterization of 39 unreported patients20163776536010.1002/humu.22983Open DOISearch in Google Scholar
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, et al. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016;39(5):713–23. doi: 10.1007/s10545-016-9945-x. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4MoravaETiemesVThielCSetaNde LonlayPde KlerkHet alALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies20163957132310.1007/s10545-016-9945-xErratum in: J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4Open DOISearch in Google Scholar
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, et al. ALG9-CDG: new clinical case and review of the literature. Mol Genet Metab Rep. 2017;13:55–63. doi: 10.1016/j. ymgmr.2017.08.004DavisKWebsterDSmithCJacksonSSinasacDSeargeantLet alALG9-CDG: new clinical case and review of the literature201713556310.1016/j.ymgmr.2017.08.004Open DOISearch in Google Scholar
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, et al. ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol. 2019;30(11):2091–102. doi: 10.1681/ASN.2019030298BesseWChangARLuoJZTriffoWJMooreBSGulatiAet alALG9 mutation carriers develop kidney and liver cysts20193011209110210.1681/ASN.2019030298Open DOISearch in Google Scholar
Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, et al. DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients. JIMD Rep. 2019;44:85–92. doi: 10.1007/8904_2018_128NgBGUnderhillHRPalmLBengtsonPRozetJMGerberSet alDPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients201944859210.1007/8904_2018_128Open DOISearch in Google Scholar
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, et al. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. Mol Genet Metab. 2019;128(1–2):151–61. doi: 10.1016/j.ymg-me.2019.08.003Pode-ShakkedBHeimerGVilbouxTMarek-YagelDBen-ZeevBDavidsMet alCerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation20191281–21516110.1016/j.ymg-me.2019.08.003Open DOISearch in Google Scholar
Rush ET, Baker CV, Rizzo WB. Dolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype. Am J Med Genet A. 2017;173(9):2428–34. doi: 10.1002/ajmg.a.38287RushETBakerCVRizzoWBDolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype2017173924283410.1002/ajmg.a.38287Open DOISearch in Google Scholar
Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, et al. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013;92(6):895–903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16. Erratum in: Am J Hum Genet. 2013;92(6):1014.LiMChengRLiangJYanHZhangHYangLet alMutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease201392689590310.1016/j.ajhg.2013.04.022Epub 2013 May 16. Erratum in: Am J Hum Genet. 2013;92(6):1014Open DOISearch in Google Scholar
Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, et al. Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. Glycobiology. 2018;28(5):276–283. doi: 10.1093/glycob/cwy014TakeuchiHWongDSchneiderMFreezeHHTakeuchiMBerardinelliSJet alVariant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features201828527628310.1093/glycob/cwy014Open DOISearch in Google Scholar
Bianchi P, Schwarz K, Högel J, Fermo E, Vercellati C, Grosse R, et al. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations. Br J Haematol. 2016;175(4):696–704. doi: 10.1111/bjh.14271BianchiPSchwarzKHögelJFermoEVercellatiCGrosseRet alAnalysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations2016175469670410.1111/bjh.14271Open DOISearch in Google Scholar
Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM, et al. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015;52(10):666–75. doi: 10.1136/jmedgenet-2015-103279FarhanSMWangJRobinsonJFPrasadANRuparCASiuVMet alOld gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses201552106667510.1136/jmedgenet-2015-103279Open DOISearch in Google Scholar
Jaeken J, Lefeber DJ, Matthijs G. Clinical utility gene card For: GALNT3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2018;26(8):1230–3. doi: 10.1038/s41431-017-0002-5JaekenJLefeberDJMatthijsGClinical utility gene card For: GALNT3 defective congenital disorder of glycosylation20182681230310.1038/s41431-017-0002-5Open DOISearch in Google Scholar
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, et al. SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals. Hum Mutat. 2019;40(7):908–925. doi: 10.1002/humu.23731NgBGSosickaPAgadiSAlmannaiMBacinoCABaroneRet alSLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals201940790892510.1002/humu.23731Open DOISearch in Google Scholar
Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, et al. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis. 2015;38(5):931–40. doi: 10.1007/s10545-015-9828-6DörreKOlczakMWadaYSosickaPGrünebergMReunertJet alA new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach20153859314010.1007/s10545-015-9828-6Open DOISearch in Google Scholar
Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, et al. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018;83(6):1133–46. doi: 10.1002/ana.25243WinawerMRGriffinNGSamanamudJBaughEHRathakrishnanDRamalingamSet alSomatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy201883611334610.1002/ana.25243Open DOISearch in Google Scholar
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, et al. A recurrent De Novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. Am J Hum Genet. 2018;103(4):553– 67. doi: 10.1016/j.ajhg.2018.09.003FerreiraCRXiaZJClémentAParryDADavidsMTaylanFet alA recurrent De Novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation20181034553–6710.1016/j.ajhg.2018.09.003Open DOISearch in Google Scholar
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014;94(3):405–14. doi: 10.1016/j.ajhg.2014.01.020BuiCHuberCTuysuzBAlanayYBole-FeysotCLeroyJGet alXYLT1 mutations in Desbuquois dysplasia type 220149434051410.1016/j.ajhg.2014.01.020Open DOISearch in Google Scholar
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, et al. GGC Repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. Am J Hum Genet. 2019;104(1):35–44. doi: 10.1016/j. ajhg.2018.11.005LaCroixAJStableyDSahraouiRAdamMPMehaffeyMKernanKet alGGC Repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome20191041354410.1016/j.ajhg.2018.11.005Open DOISearch in Google Scholar
Balasubramanian M, Johnson DS; DDD Study. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. Eur J Med Genet. 2019;62(2):109–114. doi: 10.1016/j.ejmg.2018.06.011BalasubramanianMJohnsonDSDDD Study. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature201962210911410.1016/j.ejmg.2018.06.011Open DOISearch in Google Scholar
Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, et al. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy. Genet Med. 2018;20(2):259–68. doi: 10.1038/gim.2017.106ParkJHHogrebeMFobkerMBrackmannRFiedlerBReunertJet alSLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy20182022596810.1038/gim.2017.106Open DOISearch in Google Scholar
Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J. A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy. Neuromuscul Disord. 2018;28(8):671–4. doi: 10.1016/j.nmd.2018.06.006ZaumAKKolokotronisKKressWGoebelHHRostSSeegerJA new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy2018288671410.1016/j.nmd.2018.06.006Open DOISearch in Google Scholar