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Volumn 40, Issue 5, 2017, Pages 657-672

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Author keywords

[No Author keywords available]

Indexed keywords

ALG12 PROTEIN; ALG9 PROTEIN; ATP6V1A PROTEIN; ATP6V1E1 PROTEIN; B3GALTL PROTEIN; B3GAT3 PROTEIN; COG1 PROTEIN; COG7 PROTEIN; DOLICHOL; FUKUTIN; FUKUTIN RELATED PROTEIN; N ACETYLGLUCOSAMINYL PHOSPHATIDYLINOSITOL DE N ACETYLASE; N ACETYLGLUCOSAMINYLTRANSFERASE; PGM1 PROTEIN; PHOSPHATIDYLINOSITOL; PHOSPHATIDYLINOSITOL N ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT A; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; PROTEIN O MANNOSYL TRANSFERASE 2; PROTEIN OMANNOSYL TRANSFERASE 1; STEROID ALPHA REDUCTASE 3; STEROID REDUCTASE; TRANSFERASE; UNCLASSIFIED DRUG; XYLOSYLTRANSFERASE 2;

EID: 85025111840     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-017-0066-y     Document Type: Review
Times cited : (48)

References (123)
  • 1
    • 84962274916 scopus 로고    scopus 로고
    • Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
    • Alazami AM, Al-Qattan SM, Faqeih E (2016) Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet. doi:10.1007/s00439-016-1660-z
    • (2016) Hum Genet
    • Alazami, A.M.1    Al-Qattan, S.M.2    Faqeih, E.3
  • 2
    • 41849109879 scopus 로고    scopus 로고
    • A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
    • COI: 1:STN:280:DC%2BD1c3itFChsQ%3D%3D, PID: 18271001
    • Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M (2008) A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A 146A:813–819
    • (2008) Am J Med Genet A , vol.146A , pp. 813-819
    • Al-Gazali, L.1    Hertecant, J.2    Algawi, K.3    El Teraifi, H.4    Dattani, M.5
  • 3
    • 79958065566 scopus 로고    scopus 로고
    • Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
    • COI: 1:CAS:528:DC%2BC3MXpt1yls7k%3D, PID: 21415077
    • Allali S, Le Goff C, Pressace-Diebold I et al (2011) Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 48:417–421
    • (2011) J Med Genet , vol.48 , pp. 417-421
    • Allali, S.1    Le Goff, C.2    Pressace-Diebold, I.3
  • 4
    • 77950838871 scopus 로고    scopus 로고
    • A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
    • PID: 20398363
    • Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J (2010) A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 5:7
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 7
    • Al-Owain, M.1    Mohamed, S.2    Kaya, N.3    Zagal, A.4    Matthijs, G.5    Jaeken, J.6
  • 5
    • 85012859968 scopus 로고    scopus 로고
    • Further delineation of the ALG9-CDG phenotype
    • PID: 26453364
    • AlSubhi S, AlHashem A, AlAzami A et al (2015) Further delineation of the ALG9-CDG phenotype. JIMD Rep 27:107–112
    • (2015) JIMD Rep , vol.27 , pp. 107-112
    • AlSubhi, S.1    AlHashem, A.2    AlAzami, A.3
  • 6
    • 85010356962 scopus 로고    scopus 로고
    • TMEM165 deficiency: postnatal changes in glycosylation
    • Althoff SS, Grueneberg M, Reunert J et al (2016) TMEM165 deficiency: postnatal changes in glycosylation. JIMD Rep 26:21–29
    • (2016) JIMD Rep , vol.26 , pp. 21-29
    • Althoff, S.S.1    Grueneberg, M.2    Reunert, J.3
  • 7
    • 67649410687 scopus 로고    scopus 로고
    • Impaired binding of ZASP/cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy
    • COI: 1:CAS:528:DC%2BD1MXntlGhtLY%3D, PID: 19377068
    • Arimura T, Inagaki N, Hayashi T et al (2009) Impaired binding of ZASP/cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. Cardiovasc Res 83:80–88
    • (2009) Cardiovasc Res , vol.83 , pp. 80-88
    • Arimura, T.1    Inagaki, N.2    Hayashi, T.3
  • 8
    • 18344392101 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
    • COI: 1:STN:280:DC%2BD2M3ktlyjtw%3D%3D, PID: 15714316
    • Aronica E, van Kempen AA, van der Heide M et al (2005) Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433–442
    • (2005) Acta Neuropathol , vol.109 , pp. 433-442
    • Aronica, E.1    van Kempen, A.A.2    van der Heide, M.3
  • 9
    • 79251582492 scopus 로고    scopus 로고
    • Glycosylation of purified buffalo heart galectin-1 plays crucial role in maintaining its structural and functional integrity
    • COI: 1:CAS:528:DC%2BC3cXhs1WmsLjJ
    • Ashraf GM, Bilal N, Suhail N, Hasan S, Banu N (2010) Glycosylation of purified buffalo heart galectin-1 plays crucial role in maintaining its structural and functional integrity. Biochemistry (Mosc) 75:1450–1457
    • (2010) Biochemistry (Mosc) , vol.75 , pp. 1450-1457
    • Ashraf, G.M.1    Bilal, N.2    Suhail, N.3    Hasan, S.4    Banu, N.5
  • 10
    • 80051542339 scopus 로고    scopus 로고
    • Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
    • COI: 1:CAS:528:DC%2BC3MXovF2mt7o%3D, PID: 21763480
    • Baasanjav S, Al-Gazali L, Hashiguchi T et al (2011) Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15–27
    • (2011) Am J Hum Genet , vol.89 , pp. 15-27
    • Baasanjav, S.1    Al-Gazali, L.2    Hashiguchi, T.3
  • 11
    • 84908458737 scopus 로고    scopus 로고
    • Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function
    • Baycin-Hizal D, Gottschalk A, Jacobson E et al (2015) Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function. Biochem Biophys Res Commun 453:243–253
    • (2015) Biochem Biophys Res Commun , vol.453 , pp. 243-253
    • Baycin-Hizal, D.1    Gottschalk, A.2    Jacobson, E.3
  • 12
    • 84869206683 scopus 로고    scopus 로고
    • Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
    • COI: 1:CAS:528:DC%2BC38Xhs12itLzM, PID: 22549409
    • Bello L, Melacini P, Pezzani R et al (2012) Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 20:1234–1239
    • (2012) Eur J Hum Genet , vol.20 , pp. 1234-1239
    • Bello, L.1    Melacini, P.2    Pezzani, R.3
  • 13
    • 28944454254 scopus 로고    scopus 로고
    • Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
    • PID: 16344347
    • Boito CA, Melacini P, Vianello A et al (2005) Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 62:1894–1899
    • (2005) Arch Neurol , vol.62 , pp. 1894-1899
    • Boito, C.A.1    Melacini, P.2    Vianello, A.3
  • 14
    • 72449168023 scopus 로고    scopus 로고
    • Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients
    • COI: 1:STN:280:DC%2BD1MjmsVSguw%3D%3D, PID: 19917824
    • Bourteel H, Vermersch P, Cuisset JM et al (2009) Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. J Neurol Neurosurg Psychiatry 80:1405–1408
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 1405-1408
    • Bourteel, H.1    Vermersch, P.2    Cuisset, J.M.3
  • 15
    • 84925944413 scopus 로고    scopus 로고
    • Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia
    • COI: 1:STN:280:DC%2BC2cjltFClsQ%3D%3D, PID: 24852103
    • Brady PD, Moerman P, De Catte L et al (2014) Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. Eur J Med Genet 57:487–493
    • (2014) Eur J Med Genet , vol.57 , pp. 487-493
    • Brady, P.D.1    Moerman, P.2    De Catte, L.3
  • 16
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    • COI: 1:CAS:528:DC%2BD38XhslShsA%3D%3D, PID: 11592034
    • Brockington M, Blake DJ, Prandini P et al (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198–1209
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 17
    • 79961169497 scopus 로고    scopus 로고
    • From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases
    • COI: 1:CAS:528:DC%2BC3MXptVOjur0%3D, PID: 21384228
    • Cantagrel V, Lefeber D (2011) From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. J Inherit Metab Dis 34:859–867
    • (2011) J Inherit Metab Dis , vol.34 , pp. 859-867
    • Cantagrel, V.1    Lefeber, D.2
  • 18
    • 77955057089 scopus 로고    scopus 로고
    • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
    • COI: 1:CAS:528:DC%2BC3cXpsVaiu70%3D, PID: 20637498
    • Cantagrel V, Lefeber DJ, Ng BG et al (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:203–217
    • (2010) Cell , vol.142 , pp. 203-217
    • Cantagrel, V.1    Lefeber, D.J.2    Ng, B.G.3
  • 19
    • 0027249292 scopus 로고
    • Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case
    • COI: 1:STN:280:DyaK2c%2FnvVOnug%3D%3D, PID: 8256592
    • Chang Y, Twiss JL, Horoupian DS, Caldwell SA, Johnston KM (1993) Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case. Acta Neuropathol 86:399–404
    • (1993) Acta Neuropathol , vol.86 , pp. 399-404
    • Chang, Y.1    Twiss, J.L.2    Horoupian, D.S.3    Caldwell, S.A.4    Johnston, K.M.5
  • 20
    • 0027093881 scopus 로고
    • Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome
    • COI: 1:STN:280:DyaK3s7ovVCjtg%3D%3D, PID: 1293380
    • Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15:857–861
    • (1992) J Inherit Metab Dis , vol.15 , pp. 857-861
    • Clayton, P.T.1    Winchester, B.G.2    Keir, G.3
  • 21
    • 38949153893 scopus 로고    scopus 로고
    • Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
    • Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R (2008) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A 146A(3):389–392
    • (2008) Am J Med Genet A , vol.146A , Issue.3 , pp. 389-392
    • Coman, D.1    Bostock, D.2    Hunter, M.3    Kannu, P.4    Irving, M.5    Mayne, V.6    Fietz, M.7    Jaeken, J.8    Savarirayan, R.9
  • 22
    • 38349087599 scopus 로고    scopus 로고
    • Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
    • COI: 1:CAS:528:DC%2BD1cXhsV2ht7nL, PID: 18177472
    • Cotarelo RP, Valero MC, Prados B et al (2008) Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73:139–145
    • (2008) Clin Genet , vol.73 , pp. 139-145
    • Cotarelo, R.P.1    Valero, M.C.2    Prados, B.3
  • 23
    • 39649114989 scopus 로고    scopus 로고
    • Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy
    • PID: 18060779
    • D’Amico A, Petrini S, Parisi F et al (2008) Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. Neuromuscul Disord 18:153–155
    • (2008) Neuromuscul Disord , vol.18 , pp. 153-155
    • D’Amico, A.1    Petrini, S.2    Parisi, F.3
  • 24
    • 70449421457 scopus 로고    scopus 로고
    • Novel B3GALTL mutation in Peters-plus syndrome
    • COI: 1:STN:280:DC%2BD1MjitFKmug%3D%3D, PID: 19796186
    • Dassie-Ajdid J, Causse A, Poidvin A et al (2009) Novel B3GALTL mutation in Peters-plus syndrome. Clin Genet 76:490–492
    • (2009) Clin Genet , vol.76 , pp. 490-492
    • Dassie-Ajdid, J.1    Causse, A.2    Poidvin, A.3
  • 25
    • 0035136834 scopus 로고    scopus 로고
    • A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
    • PID: 11134235
    • de Lonlay P, Seta N, Barrot S et al (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 38:14–19
    • (2001) J Med Genet , vol.38 , pp. 14-19
    • de Lonlay, P.1    Seta, N.2    Barrot, S.3
  • 26
    • 85043226609 scopus 로고    scopus 로고
    • In-silico modeling of the functional role of reduced sialylation in sodium and potassium channel gating of mouse ventricular myocytes
    • Du D, Yang H, Ednie AR, Bennet ES (2017) In-silico modeling of the functional role of reduced sialylation in sodium and potassium channel gating of mouse ventricular myocytes. IEEE J Biomed Health Inform. doi:10.1109/JBHI.2017.2664579
    • (2017) IEEE J Biomed Health Inform
    • Du, D.1    Yang, H.2    Ednie, A.R.3    Bennet, E.S.4
  • 27
    • 84921931491 scopus 로고    scopus 로고
    • Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly
    • COI: 1:CAS:528:DC%2BC2MXhvVekurY%3D, PID: 25525262
    • Ednie AR, Bennett ES (2015) Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly. J Biol Chem 290:2769–2783
    • (2015) J Biol Chem , vol.290 , pp. 2769-2783
    • Ednie, A.R.1    Bennett, E.S.2
  • 28
    • 84875359727 scopus 로고    scopus 로고
    • Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction
    • COI: 1:CAS:528:DC%2BC3sXmvVemtbc%3D, PID: 23471032
    • Ednie AR, Horton KK, Wu J, Bennett ES (2013) Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction. J Mol Cell Cardiol 59:117–127
    • (2013) J Mol Cell Cardiol , vol.59 , pp. 117-127
    • Ednie, A.R.1    Horton, K.K.2    Wu, J.3    Bennett, E.S.4
  • 29
    • 80054860616 scopus 로고    scopus 로고
    • Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
    • COI: 1:CAS:528:DC%2BC3MXhtlGiur7I, PID: 21671750
    • Faletra F, Athanasakis E, Minen F et al (2011) Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 32:256–258
    • (2011) Ophthalmic Genet , vol.32 , pp. 256-258
    • Faletra, F.1    Athanasakis, E.2    Minen, F.3
  • 30
    • 84956873662 scopus 로고    scopus 로고
    • A recurrent Germline mutation in the PIGA Gene causes Simpson–Golabi–Behmel syndrome type 2
    • PID: 26545172
    • Fauth C, Steindl K, Toutain A et al (2016) A recurrent Germline mutation in the PIGA Gene causes Simpson–Golabi–Behmel syndrome type 2. Am J Med Genet A 170A:392–402
    • (2016) Am J Med Genet A , vol.170A , pp. 392-402
    • Fauth, C.1    Steindl, K.2    Toutain, A.3
  • 31
    • 0036653856 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid
    • COI: 1:STN:280:DC%2BD38vhsVSjsQ%3D%3D, PID: 12170369
    • Feldman BJ, Rosenthal D (2002) Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid. Pediatr Cardiol 23:469–471
    • (2002) Pediatr Cardiol , vol.23 , pp. 469-471
    • Feldman, B.J.1    Rosenthal, D.2
  • 32
    • 84955710017 scopus 로고    scopus 로고
    • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy
    • PID: 26394714
    • Fleming L, Lemmon M, Beck N et al (2016) Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A 170A:77–86
    • (2016) Am J Med Genet A , vol.170A , pp. 77-86
    • Fleming, L.1    Lemmon, M.2    Beck, N.3
  • 33
    • 33644853797 scopus 로고    scopus 로고
    • Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
    • COI: 1:CAS:528:DC%2BD28XivFWis7s%3D, PID: 16537452
    • Foulquier F, Vasile E, Schollen E et al (2006) Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A 103:3764–3769
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 3764-3769
    • Foulquier, F.1    Vasile, E.2    Schollen, E.3
  • 34
    • 84874218722 scopus 로고    scopus 로고
    • Perinatal and early infantile symptoms in congenital disorders of glycosylation
    • PID: 23401092
    • Funke S, Gardeitchik T, Kouwenberg D et al (2013) Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A 161A:578–584
    • (2013) Am J Med Genet A , vol.161A , pp. 578-584
    • Funke, S.1    Gardeitchik, T.2    Kouwenberg, D.3
  • 35
    • 2142657353 scopus 로고    scopus 로고
    • Cardiomyopathy in congenital disorders of glycosylation
    • PID: 14694955
    • Gehrmann J, Sohlbach K, Linnebank M et al (2003) Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young 13:345–351
    • (2003) Cardiol Young , vol.13 , pp. 345-351
    • Gehrmann, J.1    Sohlbach, K.2    Linnebank, M.3
  • 36
    • 68049106160 scopus 로고    scopus 로고
    • A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome
    • COI: 1:CAS:528:DC%2BD1MXhtVekurnO, PID: 19610101
    • Haldeman-Englert CR, Naeem T, Geiger EA et al (2009) A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A 149A:1842–1845
    • (2009) Am J Med Genet A , vol.149A , pp. 1842-1845
    • Haldeman-Englert, C.R.1    Naeem, T.2    Geiger, E.A.3
  • 37
    • 0043237399 scopus 로고    scopus 로고
    • A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts
    • COI: 1:CAS:528:DC%2BD3sXmslegsr0%3D, PID: 12943678
    • Heinonen TYK, Pasternack L, Lindfors K et al (2003) A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. BBRC 309:166–174
    • (2003) BBRC , vol.309 , pp. 166-174
    • Heinonen, T.Y.K.1    Pasternack, L.2    Lindfors, K.3
  • 38
    • 33747603258 scopus 로고    scopus 로고
    • Murine ortholog of the novel glycosyltransferase, B3GTL: primary structure, characterization of the gene and transcripts, and expression in tissues
    • Heinonen TYK, Pelto-Huikko M, Pasternack L et al (2006) Murine ortholog of the novel glycosyltransferase, B3GTL: primary structure, characterization of the gene and transcripts, and expression in tissues. DNA Cell Biol 8:465–474
    • (2006) DNA Cell Biol , vol.8 , pp. 465-474
    • Heinonen, T.Y.K.1    Pelto-Huikko, M.2    Pasternack, L.3
  • 39
    • 84883173095 scopus 로고    scopus 로고
    • Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I
    • COI: 1:CAS:528:DC%2BC3sXht1yrs77E, PID: 23576288
    • Hollingsworth KG, Willis TA, Bates MG et al (2013) Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. Eur J Heart Fail 15:986–994
    • (2013) Eur J Heart Fail , vol.15 , pp. 986-994
    • Hollingsworth, K.G.1    Willis, T.A.2    Bates, M.G.3
  • 40
    • 84908316731 scopus 로고    scopus 로고
    • A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion
    • PID: 25793077
    • Işıkay S, Başpınar O, Yılmaz K (2014) A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. Iran J Pediatr 24:652–654
    • (2014) Iran J Pediatr , vol.24 , pp. 652-654
    • Işıkay, S.1    Başpınar, O.2    Yılmaz, K.3
  • 41
    • 0004020471 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation and dolichol and glycosylphosphatidylinositol metabolism
    • Baumgartner W, (ed), Springer-Verlag, Berlin Heidelberg
    • Jaeken J, Morava E (2016) Congenital disorders of glycosylation and dolichol and glycosylphosphatidylinositol metabolism. In: Baumgartner W (ed) Inborn metabolic diseases. Diagnosis and treatment. Saudubray, 6th edn. Springer-Verlag, Berlin Heidelberg, pp 607–622
    • (2016) Inborn metabolic diseases. Diagnosis and treatment. Saudubray , pp. 607-622
    • Jaeken, J.1    Morava, E.2
  • 42
    • 84997171050 scopus 로고    scopus 로고
    • Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
    • PID: 27871226
    • Job F, Mizumoto S, Smith L et al (2016) Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. BMC Med Genet 17:86
    • (2016) BMC Med Genet , vol.17 , pp. 86
    • Job, F.1    Mizumoto, S.2    Smith, L.3
  • 43
    • 84947029770 scopus 로고    scopus 로고
    • A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
    • PID: 26086840
    • Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC (2015) A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. Am J Med Genet A 167A:2691–2696
    • (2015) Am J Med Genet A , vol.167A , pp. 2691-2696
    • Jones, K.L.1    Schwarze, U.2    Adam, M.P.3    Byers, P.H.4    Mefford, H.C.5
  • 44
    • 84879464716 scopus 로고    scopus 로고
    • From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
    • COI: 1:CAS:528:DC%2BC3sXjvFeqt7c%3D, PID: 22327749
    • Kapusta L, Zucker N, Frenckel G et al (2013) From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev 18:187–196
    • (2013) Heart Fail Rev , vol.18 , pp. 187-196
    • Kapusta, L.1    Zucker, N.2    Frenckel, G.3
  • 45
    • 84865149514 scopus 로고    scopus 로고
    • SRD5A3-CDG: a patient with a novel mutation
    • COI: 1:STN:280:DC%2BC38vgt12msg%3D%3D, PID: 22240719
    • Kasapkara CS, Tümer L, Ezgü FS et al (2012) SRD5A3-CDG: a patient with a novel mutation. Eur J Paediatr Neurol 16:554–556
    • (2012) Eur J Paediatr Neurol , vol.16 , pp. 554-556
    • Kasapkara, C.S.1    Tümer, L.2    Ezgü, F.S.3
  • 46
    • 50649107669 scopus 로고    scopus 로고
    • Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations
    • COI: 1:STN:280:DC%2BD1cvptVKmtw%3D%3D, PID: 18671187
    • Kefi M, Amouri R, Chabrak S, Mechmeche R, Hentati F et al (2008) Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Neuropediatrics 39:113–115
    • (2008) Neuropediatrics , vol.39 , pp. 113-115
    • Kefi, M.1    Amouri, R.2    Chabrak, S.3    Mechmeche, R.4    Hentati, F.5
  • 48
    • 84977562414 scopus 로고    scopus 로고
    • Heart transplantation in a child with congenital disorder of glycosylation
    • PID: 27329399
    • Klcovansky J, Mørkrid L, Möller T (2016) Heart transplantation in a child with congenital disorder of glycosylation. J Heart Lung Transplant 35:1048–1049
    • (2016) J Heart Lung Transplant , vol.35 , pp. 1048-1049
    • Klcovansky, J.1    Mørkrid, L.2    Möller, T.3
  • 49
    • 33847228036 scopus 로고    scopus 로고
    • A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
    • COI: 1:CAS:528:DC%2BD2sXit1Wlu7k%3D, PID: 17273964
    • Kranz C, Jungeblut C, Denecke J et al (2007a) A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 80:433–440
    • (2007) Am J Hum Genet , vol.80 , pp. 433-440
    • Kranz, C.1    Jungeblut, C.2    Denecke, J.3
  • 50
    • 34249884225 scopus 로고    scopus 로고
    • Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
    • COI: 1:CAS:528:DC%2BD2sXntlOhsr0%3D, PID: 17506107
    • Kranz C, Basinger AA, Güçsavas-Calikoglu M et al (2007b) Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A 143A:1371–1378
    • (2007) Am J Med Genet A , vol.143A , pp. 1371-1378
    • Kranz, C.1    Basinger, A.A.2    Güçsavas-Calikoglu, M.3
  • 51
    • 0031958995 scopus 로고    scopus 로고
    • The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)
    • COI: 1:STN:280:DyaK1c3ksFaguw%3D%3D, PID: 9584262
    • Kristiansson B, Stibler H, Conradi N, Eriksson BO, Ryd W (1998) The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I). J Inherit Metab Dis 21:112–124
    • (1998) J Inherit Metab Dis , vol.21 , pp. 112-124
    • Kristiansson, B.1    Stibler, H.2    Conradi, N.3    Eriksson, B.O.4    Ryd, W.5
  • 52
    • 0043023644 scopus 로고    scopus 로고
    • Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome
    • COI: 1:STN:280:DC%2BD3srkslyrtA%3D%3D, PID: 14627322
    • Kusa J, Pyrkosz A, Skiba A, Szkutnik M (2003) Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome. Pediatr Cardiol 24:493–494
    • (2003) Pediatr Cardiol , vol.24 , pp. 493-494
    • Kusa, J.1    Pyrkosz, A.2    Skiba, A.3    Szkutnik, M.4
  • 53
    • 84883146458 scopus 로고    scopus 로고
    • A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
    • COI: 1:CAS:528:DC%2BC3sXhsVers7vJ, PID: 23636107
    • Kvarnung M, Nilsson D, Lindstrand A et al (2013) A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet 50:521–528
    • (2013) J Med Genet , vol.50 , pp. 521-528
    • Kvarnung, M.1    Nilsson, D.2    Lindstrand, A.3
  • 54
    • 84930182581 scopus 로고    scopus 로고
    • Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
    • COI: 1:CAS:528:DC%2BC2MXnvFSgtLk%3D, PID: 25943031
    • Lam C, Golas GA, Davids M et al (2015) Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol Genet Metab 115:128–140
    • (2015) Mol Genet Metab , vol.115 , pp. 128-140
    • Lam, C.1    Golas, G.A.2    Davids, M.3
  • 55
    • 50449084307 scopus 로고    scopus 로고
    • ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
    • PID: 18677313
    • Le Goff C, Morice-Picard F, Dagoneau N et al (2008) ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation. Nat Genet 40:1119–1123
    • (2008) Nat Genet , vol.40 , pp. 1119-1123
    • Le Goff, C.1    Morice-Picard, F.2    Dagoneau, N.3
  • 56
    • 67649584051 scopus 로고    scopus 로고
    • Deficiency of Dol-P-man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
    • COI: 1:CAS:528:DC%2BD1MXhtVeltL7M, PID: 19576565
    • Lefeber DJ, Schönberger J, Morava E et al (2009) Deficiency of Dol-P-man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 85:76–86
    • (2009) Am J Hum Genet , vol.85 , pp. 76-86
    • Lefeber, D.J.1    Schönberger, J.2    Morava, E.3
  • 57
    • 84855283452 scopus 로고    scopus 로고
    • Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    • COI: 1:CAS:528:DC%2BC38Xms1OntA%3D%3D, PID: 22242004
    • Lefeber DJ, de Brouwer AP, Morava E et al (2011) Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 7:e1002427
    • (2011) PLoS Genet , vol.7
    • Lefeber, D.J.1    de Brouwer, A.P.2    Morava, E.3
  • 58
    • 33748673792 scopus 로고    scopus 로고
    • Peters plus Ssndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    • COI: 1:CAS:528:DC%2BD28Xpt1Snt7c%3D, PID: 16909395
    • Lesnik Oberstein SAJ, Kriek M, White SJ et al (2006) Peters plus Ssndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562–566
    • (2006) Am J Hum Genet , vol.79 , pp. 562-566
    • Lesnik Oberstein, S.A.J.1    Kriek, M.2    White, S.J.3
  • 59
    • 84880959462 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2I is not rare in Taiwan
    • PID: 23800702
    • Liang WC, Hayashi YK, Ogawa M et al (2013) Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord 23:675–681
    • (2013) Neuromuscul Disord , vol.23 , pp. 675-681
    • Liang, W.C.1    Hayashi, Y.K.2    Ogawa, M.3
  • 60
    • 84897065262 scopus 로고    scopus 로고
    • Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
    • COI: 1:CAS:528:DC%2BC3sXhs1yqsLvE, PID: 24144945
    • Lieu MT, Ng BG, Rush JS et al (2013) Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab 110:484–489
    • (2013) Mol Genet Metab , vol.110 , pp. 484-489
    • Lieu, M.T.1    Ng, B.G.2    Rush, J.S.3
  • 61
    • 10744223007 scopus 로고    scopus 로고
    • New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
    • COI: 1:CAS:528:DC%2BD2cXhsVOgsbo%3D, PID: 14652796
    • Louhichi N, Triki C, Quijano-Roy S et al (2004) New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics 5:27–34
    • (2004) Neurogenetics , vol.5 , pp. 27-34
    • Louhichi, N.1    Triki, C.2    Quijano-Roy, S.3
  • 62
    • 58749111680 scopus 로고    scopus 로고
    • Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a
    • COI: 1:STN:280:DC%2BD1MrnslSqsA%3D%3D, PID: 19176971
    • Malhotra A, Pateman A, Chalmers R, Coman D, Menahem S (2009) Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagn Ther 25:54–57
    • (2009) Fetal Diagn Ther , vol.25 , pp. 54-57
    • Malhotra, A.1    Pateman, A.2    Chalmers, R.3    Coman, D.4    Menahem, S.5
  • 63
    • 71549166639 scopus 로고    scopus 로고
    • Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I
    • COI: 1:CAS:528:DC%2BD1MXhsVGmsbvK, PID: 19705481
    • Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA (2009) Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle Nerve 40:883–889
    • (2009) Muscle Nerve , vol.40 , pp. 883-889
    • Margeta, M.1    Connolly, A.M.2    Winder, T.L.3    Pestronk, A.4    Moore, S.A.5
  • 64
    • 0036392644 scopus 로고    scopus 로고
    • Severe transient myocardial ischemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia
    • PID: 12297897
    • Marquardt T, Hülskamp G, Gehrmann J, Debus V, Harms E, Kehl HG (2002) Severe transient myocardial ischemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161:524–527
    • (2002) Eur J Pediatr , vol.161 , pp. 524-527
    • Marquardt, T.1    Hülskamp, G.2    Gehrmann, J.3    Debus, V.4    Harms, E.5    Kehl, H.G.6
  • 65
    • 85009921397 scopus 로고    scopus 로고
    • Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
    • Marques-da-Silva D, Dos Reis FV, Monticelli M et al (2017) Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. doi:10.1007/s10545-016-0012-4
    • (2017) J Inherit Metab Dis
    • Marques-da-Silva, D.1    Dos Reis, F.V.2    Monticelli, M.3
  • 66
    • 84896547368 scopus 로고    scopus 로고
    • Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy
    • COI: 1:CAS:528:DC%2BC2cXktlGhtb0%3D, PID: 24002165
    • Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL (2014) Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. Eur J Hum Genet 22:486–491
    • (2014) Eur J Hum Genet , vol.22 , pp. 486-491
    • Martinez, H.R.1    Craigen, W.J.2    Ummat, M.3    Adesina, A.M.4    Lotze, T.E.5    Jefferies, J.L.6
  • 67
    • 79958057768 scopus 로고    scopus 로고
    • Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
    • COI: 1:CAS:528:DC%2BC3MXpt1yls70%3D, PID: 21493957
    • Maydan G, Noyman I, Har-Zahav A et al (2011) Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383–389
    • (2011) J Med Genet , vol.48 , pp. 383-389
    • Maydan, G.1    Noyman, I.2    Har-Zahav, A.3
  • 68
    • 84974736224 scopus 로고    scopus 로고
    • Fryns syndrome associated with recessive mutations in PIGN in two separate families
    • COI: 1:CAS:528:DC%2BC28XhtVSiu73E, PID: 27038415
    • McInerney-Leo AM, Harris JE, Gattas M et al (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat 37:695–702
    • (2016) Hum Mutat , vol.37 , pp. 695-702
    • McInerney-Leo, A.M.1    Harris, J.E.2    Gattas, M.3
  • 69
    • 0037380737 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    • COI: 1:CAS:528:DC%2BD3sXjtFGiur0%3D, PID: 12666124
    • Mercuri E, Brockington M, Straub V et al (2003) Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 53:537–542
    • (2003) Ann Neurol , vol.53 , pp. 537-542
    • Mercuri, E.1    Brockington, M.2    Straub, V.3
  • 70
    • 0023639772 scopus 로고
    • Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography
    • COI: 1:STN:280:DyaL1c7kslChug%3D%3D, PID: 3439458
    • Miura K, Shirasawa H (1987) Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol Jpn 37:1823–1835
    • (1987) Acta Pathol Jpn , vol.37 , pp. 1823-1835
    • Miura, K.1    Shirasawa, H.2
  • 71
    • 84978113399 scopus 로고    scopus 로고
    • Immunological aspects of congenital disorders of glycosylation (CDG): a review
    • COI: 1:CAS:528:DC%2BC28XhtFOhu7rM, PID: 27393411
    • Monticelli M, Ferro T, Jaeken J, Dos Reis FV, Videira PA (2016) Immunological aspects of congenital disorders of glycosylation (CDG): a review. J Inherit Metab Dis 39:765–780
    • (2016) J Inherit Metab Dis , vol.39 , pp. 765-780
    • Monticelli, M.1    Ferro, T.2    Jaeken, J.3    Dos Reis, F.V.4    Videira, P.A.5
  • 72
    • 70349515573 scopus 로고    scopus 로고
    • Regulated and aberrant glycosylation modulate cardiac electrical signaling
    • COI: 1:CAS:528:DC%2BD1MXht1KqtbzO, PID: 19666501
    • Montpetit ML, Stocker PJ, Schwetz TA (2009) Regulated and aberrant glycosylation modulate cardiac electrical signaling. Proc Natl Acad Sci U S A 106:16517–16522
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 16517-16522
    • Montpetit, M.L.1    Stocker, P.J.2    Schwetz, T.A.3
  • 73
    • 34249678544 scopus 로고    scopus 로고
    • A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    • COI: 1:CAS:528:DC%2BD2sXls1KjtLw%3D, PID: 17356545
    • Morava E, Zeevaert R, Korsch E et al (2007) A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet 15:638–645
    • (2007) Eur J Hum Genet , vol.15 , pp. 638-645
    • Morava, E.1    Zeevaert, R.2    Korsch, E.3
  • 74
    • 17044411326 scopus 로고    scopus 로고
    • Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
    • PID: 15833432
    • Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S (2005) Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord 15:372–376
    • (2005) Neuromuscul Disord , vol.15 , pp. 372-376
    • Müller, T.1    Krasnianski, M.2    Witthaut, R.3    Deschauer, M.4    Zierz, S.5
  • 75
    • 84930616803 scopus 로고    scopus 로고
    • Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects
    • COI: 1:CAS:528:DC%2BC2MXpt1Sksrw%3D, PID: 26027496
    • Munns CF, Fahiminiya S, Poudel N (2015) Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96:971–978
    • (2015) Am J Hum Genet , vol.96 , pp. 971-978
    • Munns, C.F.1    Fahiminiya, S.2    Poudel, N.3
  • 76
    • 33845309490 scopus 로고    scopus 로고
    • Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
    • COI: 1:CAS:528:DC%2BD2sXkt1altg%3D%3D, PID: 17036286
    • Murakami T, Hayashi YK, Noguchi S et al (2006) Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 60:597–602
    • (2006) Ann Neurol , vol.60 , pp. 597-602
    • Murakami, T.1    Hayashi, Y.K.2    Noguchi, S.3
  • 77
    • 84975815576 scopus 로고    scopus 로고
    • Aberrant glycosylation in the left ventricle and plasma of rats with cardiac hypertrophy and heart failure
    • PID: 27281159
    • Nagai-Okatani C, Minamino N (2016) Aberrant glycosylation in the left ventricle and plasma of rats with cardiac hypertrophy and heart failure. PLoS One 11:e0150210
    • (2016) PLoS One , vol.11
    • Nagai-Okatani, C.1    Minamino, N.2
  • 78
    • 85015982965 scopus 로고    scopus 로고
    • MiR30-GALNT1/2 Axis-Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts
    • Nakagawa Y, Nishikimi T, Kuwahara K et al (2017) MiR30-GALNT1/2 Axis-Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts. J Am Heart Assoc 6. doi:10.1161/JAHA.116.003601.
    • (2017) J Am Heart Assoc , vol.6
    • Nakagawa, Y.1    Nishikimi, T.2    Kuwahara, K.3
  • 79
    • 33745310936 scopus 로고    scopus 로고
    • Cardiac involvement in Fukuyama-type congenital muscular dystrophy
    • PID: 16717122
    • Nakanishi T, Sakauchi M, Kaneda Y et al (2006) Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 117:e1187–e1192
    • (2006) Pediatrics , vol.117 , pp. e1187-e1192
    • Nakanishi, T.1    Sakauchi, M.2    Kaneda, Y.3
  • 80
    • 84904570744 scopus 로고    scopus 로고
    • Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
    • PID: 24906948
    • Nakashima M, Kashii H, Murakami Y et al (2014) Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics 15:193–200
    • (2014) Neurogenetics , vol.15 , pp. 193-200
    • Nakashima, M.1    Kashii, H.2    Murakami, Y.3
  • 81
    • 17444429987 scopus 로고    scopus 로고
    • Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
    • Noelle V, Knuepfer M, Pulzer F et al (2005) Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164:225–226
    • (2005) Eur J Pediatr , vol.164 , pp. 225-226
    • Noelle, V.1    Knuepfer, M.2    Pulzer, F.3
  • 82
    • 84863878721 scopus 로고    scopus 로고
    • Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
    • COI: 1:STN:280:DC%2BC38jktlaksA%3D%3D, PID: 22727687
    • Pane M, Messina S, Vasco G et al (2012) Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 22:685–689
    • (2012) Neuromuscul Disord , vol.22 , pp. 685-689
    • Pane, M.1    Messina, S.2    Vasco, G.3
  • 83
    • 0027398495 scopus 로고
    • Early manifestations of the carbohydrate-deficient glycoprotein syndrome
    • Petersen MB, Brostrøm K, Stibler H, Skovby F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 122(1):66–70
    • (1993) J Pediatr , vol.122 , Issue.1 , pp. 66-70
    • Petersen, M.B.1    Brostrøm, K.2    Stibler, H.3    Skovby, F.4
  • 84
    • 9144248503 scopus 로고    scopus 로고
    • Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
    • COI: 1:CAS:528:DC%2BD2cXhtVCgsLbP, PID: 15505776
    • Poppe M, Bourke J, Eagle M (2004) Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 56:738–741
    • (2004) Ann Neurol , vol.56 , pp. 738-741
    • Poppe, M.1    Bourke, J.2    Eagle, M.3
  • 85
    • 55549109436 scopus 로고    scopus 로고
    • Mutation analysis of B3GALTL in Peters plus syndrome
    • COI: 1:CAS:528:DC%2BD1MXitVWgtLk%3D, PID: 18798333
    • Reis LM, Tylor RC, Abdul-Rahman O et al (2008) Mutation analysis of B3GALTL in Peters plus syndrome. Am J Med Genet A 146A:2603–2610
    • (2008) Am J Med Genet A , vol.146A , pp. 2603-2610
    • Reis, L.M.1    Tylor, R.C.2    Abdul-Rahman, O.3
  • 87
    • 84890435880 scopus 로고    scopus 로고
    • ALG1-CDG: a new case with early fatal outcome
    • COI: 1:CAS:528:DC%2BC3sXhslGntbzL, PID: 24157261
    • Rohlfing A-K, Rust S, Reunert J et al (2014) ALG1-CDG: a new case with early fatal outcome. Gene 534:345–351
    • (2014) Gene , vol.534 , pp. 345-351
    • Rohlfing, A.-K.1    Rust, S.2    Reunert, J.3
  • 88
    • 65949119516 scopus 로고    scopus 로고
    • Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
    • COI: 1:STN:280:DC%2BD1M3mvVentQ%3D%3D, PID: 19357119
    • Romano S, Bajolle F, Valayannopoulos V et al (2009) Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet 46:287–288
    • (2009) J Med Genet , vol.46 , pp. 287-288
    • Romano, S.1    Bajolle, F.2    Valayannopoulos, V.3
  • 89
    • 84555223124 scopus 로고    scopus 로고
    • Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
    • PID: 21816046
    • Rosales XQ, Moser SJ, Tran T (2011) Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I. J Cardiovasc Magn Reson 13:39
    • (2011) J Cardiovasc Magn Reson , vol.13 , pp. 39
    • Rosales, X.Q.1    Moser, S.J.2    Tran, T.3
  • 90
    • 84863986475 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia
    • PID: 22374380
    • Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP (2012) Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Pediatr Cardiol 33:827–830
    • (2012) Pediatr Cardiol , vol.33 , pp. 827-830
    • Rudaks, L.I.1    Andersen, C.2    Khong, T.Y.3    Kelly, A.4    Fietz, M.5    Barnett, C.P.6
  • 91
    • 84892685784 scopus 로고    scopus 로고
    • MAN1B1 deficiency: an unexpected CDG-II
    • PID: 24348268
    • Rymen D, Peanne R, Millón MB et al (2013) MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet 9:e1003989
    • (2013) PLoS Genet , vol.9
    • Rymen, D.1    Peanne, R.2    Millón, M.B.3
  • 92
    • 33947573898 scopus 로고    scopus 로고
    • Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
    • COI: 1:CAS:528:DC%2BD2sXjs1Ontrw%3D, PID: 17307006
    • Schollen E, Keldermans L, Foulquier F et al (2007) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 90:408–413
    • (2007) Mol Genet Metab , vol.90 , pp. 408-413
    • Schollen, E.1    Keldermans, L.2    Foulquier, F.3
  • 93
    • 85026448001 scopus 로고    scopus 로고
    • News on clinical details and treatment in PGM1-CDG
    • PID: 26303607
    • Schrapers E, Tegtmeyer LC, Simic-Schleicher G et al (2016) News on clinical details and treatment in PGM1-CDG. JIMD Rep 26:77–84
    • (2016) JIMD Rep , vol.26 , pp. 77-84
    • Schrapers, E.1    Tegtmeyer, L.C.2    Simic-Schleicher, G.3
  • 94
    • 0028999154 scopus 로고
    • Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases
    • COI: 1:STN:280:DyaK2MzpsFyhtg%3D%3D, PID: 7666399
    • Shashi V, Zunich J, Kelly TE, Fryburg JS (1995) Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. J Med Genet 32:465–469
    • (1995) J Med Genet , vol.32 , pp. 465-469
    • Shashi, V.1    Zunich, J.2    Kelly, T.E.3    Fryburg, J.S.4
  • 95
    • 84943345353 scopus 로고    scopus 로고
    • Congenital disorders of N-linked glycosylation. Pathway overview
    • Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, LJH B, Bird TD, Fong CT, Mefford HC, RJH S, Stephens K, (eds), University of Washington, Seattle
    • Sparks SE, Krasnewich DM (2014) Congenital disorders of N-linked glycosylation. Pathway overview. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, LJH B, Bird TD, Fong CT, Mefford HC, RJH S, Stephens K (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2016
    • (2014) GeneReviews® [Internet] , pp. 1993-2016
    • Sparks, S.E.1    Krasnewich, D.M.2
  • 96
    • 0025779295 scopus 로고
    • Postmortem findings in two patients with the carbohydrate deficient glycoprotein syndrome
    • Strømme P, Maehlen J, Strøm EH, Torvik A (1991) Postmortem findings in two patients with the carbohydrate deficient glycoprotein syndrome. Acta Pediatr Scand Suppl 375:55–62
    • (1991) Acta Pediatr Scand Suppl , vol.375 , pp. 55-62
    • Strømme, P.1    Maehlen, J.2    Strøm, E.H.3    Torvik, A.4
  • 97
    • 23044496263 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
    • COI: 1:CAS:528:DC%2BD2MXmtlChs78%3D, PID: 15840742
    • Sun L, Eklund EA, Chung WK et al (2005) Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab 90:4371–4375
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4371-4375
    • Sun, L.1    Eklund, E.A.2    Chung, W.K.3
  • 98
    • 33646353390 scopus 로고    scopus 로고
    • High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    • COI: 1:CAS:528:DC%2BD28XkvFKhsbw%3D, PID: 16634037
    • Sveen ML, Schwartz M, Vissing J (2006) High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 59:808–815
    • (2006) Ann Neurol , vol.59 , pp. 808-815
    • Sveen, M.L.1    Schwartz, M.2    Vissing, J.3
  • 99
    • 51649084872 scopus 로고    scopus 로고
    • Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
    • PID: 18779423
    • Sveen ML, Thune JJ, Køber L, Vissing J (2008) Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. Arch Neurol 65:1196–1201
    • (2008) Arch Neurol , vol.65 , pp. 1196-1201
    • Sveen, M.L.1    Thune, J.J.2    Køber, L.3    Vissing, J.4
  • 101
    • 84980010318 scopus 로고    scopus 로고
    • Spondyloocular syndrome: novel mutations in XYLT2 Gene and Expansion of the phenotypic Spectrum
    • COI: 1:CAS:528:DC%2BC28Xht1GlurnP, PID: 26987875
    • Taylan F, Costantini A, Coles N et al (2016) Spondyloocular syndrome: novel mutations in XYLT2 Gene and Expansion of the phenotypic Spectrum. J Bone Miner Res 31:1577–1585
    • (2016) J Bone Miner Res , vol.31 , pp. 1577-1585
    • Taylan, F.1    Costantini, A.2    Coles, N.3
  • 102
    • 84893589222 scopus 로고    scopus 로고
    • Multiple phenotypes in phosphoglucomutase 1 deficiency
    • COI: 1:CAS:528:DC%2BC2cXisFaktLY%3D, PID: 24499211
    • Tegtmeyer LC, Rust S, van Scherpenzeel M et al (2014) Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 370:533–542
    • (2014) N Engl J Med , vol.370 , pp. 533-542
    • Tegtmeyer, L.C.1    Rust, S.2    van Scherpenzeel, M.3
  • 103
    • 84954383111 scopus 로고    scopus 로고
    • A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
    • COI: 1:CAS:528:DC%2BC28Xht1Kmur0%3D, PID: 25966638
    • Tham E, Eklund EA, Hammarsjö A (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet 24:198–207
    • (2016) Eur J Hum Genet , vol.24 , pp. 198-207
    • Tham, E.1    Eklund, E.A.2    Hammarsjö, A.3
  • 104
    • 79961171857 scopus 로고    scopus 로고
    • Mouse models for congenital disorders of glycosylation
    • COI: 1:CAS:528:DC%2BC3MXptVOjur8%3D, PID: 21347588
    • Thiel C, Körner C (2011) Mouse models for congenital disorders of glycosylation. J Inherit Metab Dis 34:879–889
    • (2011) J Inherit Metab Dis , vol.34 , pp. 879-889
    • Thiel, C.1    Körner, C.2
  • 105
    • 84881007976 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation
    • PID: 19165618
    • Thong MK, Fietz M, Nicholls C, Lee MH, Asma O et al (2009) Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. J Inherit Metab Dis 32(Suppl 1):S41–S44
    • (2009) J Inherit Metab Dis , vol.32 , pp. S41-S44
    • Thong, M.K.1    Fietz, M.2    Nicholls, C.3    Lee, M.H.4    Asma, O.5
  • 106
    • 84866425378 scopus 로고    scopus 로고
    • Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
    • COI: 1:CAS:528:DC%2BC38XhtlGhsbbK, PID: 22492991
    • Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21:4151–4161
    • (2012) Hum Mol Genet , vol.21 , pp. 4151-4161
    • Timal, S.1    Hoischen, A.2    Lehle, L.3
  • 107
    • 46749131183 scopus 로고    scopus 로고
    • Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
    • COI: 1:CAS:528:DC%2BD1cXosVOnurk%3D, PID: 18571450
    • Truin G, Guillard M, Lefeber DJ et al (2008) Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab 94:481–484
    • (2008) Mol Genet Metab , vol.94 , pp. 481-484
    • Truin, G.1    Guillard, M.2    Lefeber, D.J.3
  • 108
    • 85008429031 scopus 로고    scopus 로고
    • Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
    • Van Damme T, Gardeitchik T, Mohamed M et al (2017) Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. Am J Hum Genet 100:1–12
    • (2017) Am J Hum Genet , vol.100 , pp. 1-12
    • Van Damme, T.1    Gardeitchik, T.2    Mohamed, M.3
  • 109
    • 34247112772 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
    • PID: 17158594
    • van de Kamp JM, Lefeber DJ, Ruijter GJ et al (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44:277–280
    • (2007) J Med Genet , vol.44 , pp. 277-280
    • van de Kamp, J.M.1    Lefeber, D.J.2    Ruijter, G.J.3
  • 110
    • 84922945390 scopus 로고    scopus 로고
    • Peters plus syndrome mutations disrupt a noncanonical ER quality control mechanism
    • COI: 1:CAS:528:DC%2BC2MXkslaltA%3D%3D, PID: 25544610
    • Vasudevan D, Takeuchi H, Johar SS et al (2015) Peters plus syndrome mutations disrupt a noncanonical ER quality control mechanism. Curr Biol 25:286–295
    • (2015) Curr Biol , vol.25 , pp. 286-295
    • Vasudevan, D.1    Takeuchi, H.2    Johar, S.S.3
  • 111
    • 84897580419 scopus 로고    scopus 로고
    • A new case of ALG8 deficiency (CDG Ih)
    • Vesela K, Honzik T, Hansikova H (2009) A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis 32 Suppl 1. doi:10.1007/s10545-009-1203-z.
    • (2009) J Inherit Metab Dis , vol.32
    • Vesela, K.1    Honzik, T.2    Hansikova, H.3
  • 112
    • 67650135460 scopus 로고    scopus 로고
    • Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient
    • COI: 1:CAS:528:DC%2BD1MXot1ersrc%3D, PID: 19451548
    • Vleugels W, Keldermans L, Jaeken J et al (2009) Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology 19:910–917
    • (2009) Glycobiology , vol.19 , pp. 910-917
    • Vleugels, W.1    Keldermans, L.2    Jaeken, J.3
  • 113
    • 84911893777 scopus 로고    scopus 로고
    • Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure
    • COI: 1:CAS:528:DC%2BC28XitVyhtb7I, PID: 25157115
    • Vodovar N, Séronde MF, Laribi S et al (2014) Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure. Eur Heart J 35:3434–3441
    • (2014) Eur Heart J , vol.35 , pp. 3434-3441
    • Vodovar, N.1    Séronde, M.F.2    Laribi, S.3
  • 114
    • 84899959040 scopus 로고    scopus 로고
    • Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype
    • von Oettingen JE, Tan WH, Dauber A (2014) Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. Am J Med Genet A 164A:1580–1586
    • (2014) Am J Med Genet A , vol.164A , pp. 1580-1586
    • von Oettingen, J.E.1    Tan, W.H.2    Dauber, A.3
  • 115
    • 48749108191 scopus 로고    scopus 로고
    • Cardiac assessment of limb–girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
    • PID: 18639457
    • Wahbi K, Meune C, Hamouda el H et al (2008) Cardiac assessment of limb–girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 18:650–655
    • (2008) Neuromuscul Disord , vol.18 , pp. 650-655
    • Wahbi, K.1    Meune, C.2    Hamouda el, H.3
  • 116
    • 2342590096 scopus 로고    scopus 로고
    • FKRP (826C>a) frequently causes limb-girdle muscular dystrophy in German patients
    • COI: 1:STN:280:DC%2BD2c7ntFejug%3D%3D, PID: 15060126
    • Walter MC, Petersen JA, Stucka R et al (2004) FKRP (826C>a) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 41:e50
    • (2004) J Med Genet , vol.41
    • Walter, M.C.1    Petersen, J.A.2    Stucka, R.3
  • 117
    • 84904703878 scopus 로고    scopus 로고
    • Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
    • COI: 1:CAS:528:DC%2BC2cXht1SmtbjJ, PID: 23889335
    • Weh E, Reis LM, Tyler RC et al (2014) Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet 86:142–148
    • (2014) Clin Genet , vol.86 , pp. 142-148
    • Weh, E.1    Reis, L.M.2    Tyler, R.C.3
  • 118
    • 22044448890 scopus 로고    scopus 로고
    • CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
    • Weinstein M, Schollen MG et al (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet 136A:194–197
    • (2005) Am J Med Genet , vol.136A , pp. 194-197
    • Weinstein, M.1    Schollen, M.G.2
  • 119
    • 84971283620 scopus 로고    scopus 로고
    • Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency
    • COI: 1:CAS:528:DC%2BC28XotFOnsL0%3D, PID: 27206562
    • Wong SY, Beamer LJ, Gadomski T et al (2016) Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. J Pediatr 175:130–136
    • (2016) J Pediatr , vol.175 , pp. 130-136
    • Wong, S.Y.1    Beamer, L.J.2    Gadomski, T.3
  • 120
    • 2442696341 scopus 로고    scopus 로고
    • Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
    • COI: 1:CAS:528:DC%2BD2cXjsF2jtLk%3D, PID: 15107842
    • Wu X, Steet RA, Bohorov O et al (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10:518–523
    • (2004) Nat Med , vol.10 , pp. 518-523
    • Wu, X.1    Steet, R.A.2    Bohorov, O.3
  • 121
    • 34548745870 scopus 로고    scopus 로고
    • New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation
    • COI: 1:STN:280:DC%2BD2srlsFShsA%3D%3D, PID: 17634419
    • Yanagisawa A, Bouchet C, Van den Bergh PY et al (2007) New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology 69:1254–1260
    • (2007) Neurology , vol.69 , pp. 1254-1260
    • Yanagisawa, A.1    Bouchet, C.2    Van den Bergh, P.Y.3
  • 122
    • 80051786337 scopus 로고    scopus 로고
    • The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)
    • PID: 21311896
    • Yilmaz A, Gdynia HJ, Ponfick M, Ludolph AC, Rösch S, Sechtem U (2011) The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I). Clin Res Cardiol 100:611–615
    • (2011) Clin Res Cardiol , vol.100 , pp. 611-615
    • Yilmaz, A.1    Gdynia, H.J.2    Ponfick, M.3    Ludolph, A.C.4    Rösch, S.5    Sechtem, U.6
  • 123
    • 69049088687 scopus 로고    scopus 로고
    • A new mutation in COG7 extends the spectrum of COG subunit deficiencies
    • PID: 19577670
    • Zeevaert R, Foulquier F, Cheillan D et al (2009) A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet 52:303–305
    • (2009) Eur J Med Genet , vol.52 , pp. 303-305
    • Zeevaert, R.1    Foulquier, F.2    Cheillan, D.3


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