메뉴 건너뛰기




Volumn 14, Issue SUPPL. 1, 1999, Pages

Screening for 'prelysosomal disorders': Carbohydrate-deficient glycoprotein syndromes

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CEREBROSIDE SULFATASE; GLYCOPROTEIN; OLIGOSACCHARIDE; PLASMA PROTEIN; TRANSFERRIN;

EID: 0032726532     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073899014001041     Document Type: Article
Times cited : (20)

References (36)
  • 1
    • 0027485958 scopus 로고
    • The carbohydrate-deficient glycoprotein syndromes: An overview
    • Jaeken J, Carchon H: The carbohydrate-deficient glycoprotein syndromes: An overview. J Inherit Metab Dis 1993;16:813-820.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 813-820
    • Jaeken, J.1    Carchon, H.2
  • 2
    • 0019420191 scopus 로고
    • Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in undine 5′-diphosphate-N-acetylglucosamine:glycoprotein N-acetyl-glucosaminyl phosphotransferase activity
    • Reitman ML, Varki A, Kornfeld S: Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in undine 5′-diphosphate-N-acetylglucosamine:glycoprotein N-acetyl-glucosaminyl phosphotransferase activity. J Clin Invest 1981;67: 1574-1579.
    • (1981) J Clin Invest , vol.67 , pp. 1574-1579
    • Reitman, M.L.1    Varki, A.2    Kornfeld, S.3
  • 3
    • 11944260919 scopus 로고
    • Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II (HEMPAS) caused by a gene defect encoding alpha-mannosidase II
    • Fukuda MN, Masri KA, Dell A, et al: Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II (HEMPAS) caused by a gene defect encoding alpha-mannosidase II. Proc Natl Acad Sci USA 1990;87:7443-7447.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 7443-7447
    • Fukuda, M.N.1    Masri, K.A.2    Dell, A.3
  • 4
    • 0033051762 scopus 로고    scopus 로고
    • The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
    • Kremmidiotis G, Lensink IL, Bilton RL, et al: The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. Hum Mol Genet 1999;8:523-531.
    • (1999) Hum Mol Genet , vol.8 , pp. 523-531
    • Kremmidiotis, G.1    Lensink, I.L.2    Bilton, R.L.3
  • 5
    • 0027318961 scopus 로고
    • Biologic roles of oligosaccharides: All of the theories are correct
    • Varki A: Biologic roles of oligosaccharides: All of the theories are correct. Glycobiology 1993;3:97-130.
    • (1993) Glycobiology , vol.3 , pp. 97-130
    • Varki, A.1
  • 6
    • 0002144194 scopus 로고
    • The biogenesis of membranes and organelles
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
    • Sabatini DD, Adesnik MB: The biogenesis of membranes and organelles, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Molecular and Metabolic Bases of Inherited Disease, vol 1. New York, McGraw-Hill, 1995, pp 459-553.
    • (1995) The Molecular and Metabolic Bases of Inherited Disease , vol.1 , pp. 459-553
    • Sabatini, D.D.1    Adesnik, M.B.2
  • 7
    • 0000249979 scopus 로고
    • Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase A and increased CSF protein: A new syndrome?
    • Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, et al: Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase A and increased CSF protein: A new syndrome? Pediatr Res 1980;14:179.
    • (1980) Pediatr Res , vol.14 , pp. 179
    • Jaeken, J.1    Vanderschueren-Lodeweyckx, M.2    Casaer, P.3
  • 8
    • 0021686784 scopus 로고
    • Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
    • Jaeken J, van Eijk HG, van der Heul C, et al: Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984;144:245-247.
    • (1984) Clin Chim Acta , vol.144 , pp. 245-247
    • Jaeken, J.1    Van Eijk, H.G.2    Van Der Heul, C.3
  • 9
    • 0026268002 scopus 로고
    • The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement
    • Jaeken J, Stibler H, Hagberg B: The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement. Acta Pediatr Scand 1991; 375(Suppl):1-71.
    • (1991) Acta Pediatr Scand , vol.375 , Issue.SUPPL. , pp. 1-71
    • Jaeken, J.1    Stibler, H.2    Hagberg, B.3
  • 10
    • 0028958406 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome: Electrophoretic study of multiple serum glycoproteins
    • Yuasa I, Ohno K, Hashimoto K, et al: Carbohydrate-deficient glycoprotein syndrome: Electrophoretic study of multiple serum glycoproteins. Brain Dev 1995;17:13-19.
    • (1995) Brain Dev , vol.17 , pp. 13-19
    • Yuasa, I.1    Ohno, K.2    Hashimoto, K.3
  • 11
    • 0031290369 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoconjugate syndromes: A new chapter of neuropediatrics
    • Jaeken J, Casaer P: Carbohydrate-deficient glycoconjugate syndromes: A new chapter of neuropediatrics. Eur J Pediatr Neurol 1997;2/3:61-66.
    • (1997) Eur J Pediatr Neurol , vol.2-3 , pp. 61-66
    • Jaeken, J.1    Casaer, P.2
  • 12
    • 0027478496 scopus 로고
    • Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots
    • Stibler H, Cederberg B: Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots. Acta Paediatr 1993;82:55-59.
    • (1993) Acta Paediatr , vol.82 , pp. 55-59
    • Stibler, H.1    Cederberg, B.2
  • 14
    • 0029957579 scopus 로고    scopus 로고
    • Inhibition of phosphomannose isomerase by fructose 1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance
    • Jaeken J, Pirard M, Adamowicz M, et al: Inhibition of phosphomannose isomerase by fructose 1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 1996;40:764-766.
    • (1996) Pediatr Res , vol.40 , pp. 764-766
    • Jaeken, J.1    Pirard, M.2    Adamowicz, M.3
  • 15
    • 0027457737 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus, letter
    • Clayton P, Winchester B, Di Tomaso E, et al: Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus, letter. Lancet 1993;341:956.
    • (1993) Lancet , vol.341 , pp. 956
    • Clayton, P.1    Winchester, B.2    Di Tomaso, E.3
  • 16
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • Van Schaftingen E, Jaeken J: Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-320.
    • (1995) FEBS Lett , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2
  • 17
    • 0029820486 scopus 로고    scopus 로고
    • Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development
    • Tan J, Dunn J, Jaeken J, Schachter H: Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet 1996;59: 810-817.
    • (1996) Am J Hum Genet , vol.59 , pp. 810-817
    • Tan, J.1    Dunn, J.2    Jaeken, J.3    Schachter, H.4
  • 18
    • 0032528886 scopus 로고    scopus 로고
    • A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
    • Burda P, Borsig L, de Rijk-van Andel J, et al: A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J Clin Invest 1998;102:647-652.
    • (1998) J Clin Invest , vol.102 , pp. 647-652
    • Burda, P.1    Borsig, L.2    De Rijk-Van Andel, J.3
  • 19
    • 0032573176 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9 GlcNAc2-PP-dolichyl glucosyltransferase
    • Korner C, Knauer R, Holzbach U, et al: Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9 GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci U S A 1998;95:13200-13205.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 13200-13205
    • Korner, C.1    Knauer, R.2    Holzbach, U.3
  • 20
    • 0027177255 scopus 로고
    • Carbohydrate-deficient glycoprotein (CDG) syndrome - A new variant, type III
    • Stibler H, Westerberg B, Hanefeld F, Hagberg B: Carbohydrate-deficient glycoprotein (CDG) syndrome - a new variant, type III. Neuropediatrics 1993;24:51-52.
    • (1993) Neuropediatrics , vol.24 , pp. 51-52
    • Stibler, H.1    Westerberg, B.2    Hanefeld, F.3    Hagberg, B.4
  • 21
    • 0028851977 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome - A fourth subtype
    • Stibler H, Stephani U, Kutsch U: Carbohydrate-deficient glycoprotein syndrome - a fourth subtype. Neuropediatrics 1995;26: 235-237.
    • (1995) Neuropediatrics , vol.26 , pp. 235-237
    • Stibler, H.1    Stephani, U.2    Kutsch, U.3
  • 22
    • 0031979479 scopus 로고    scopus 로고
    • Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
    • Barone R, Carchon H, Jansen E, et al: Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency). J Inherit Metab Dis 1998;21:167-172.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 167-172
    • Barone, R.1    Carchon, H.2    Jansen, E.3
  • 23
    • 0031019482 scopus 로고    scopus 로고
    • Carbohydrate deficient glycoprotein (CDG) syndrome type I
    • Jaeken J, Matthijs G, Barone R, Carchon H: Carbohydrate deficient glycoprotein (CDG) syndrome type I. J Med Genet 1997;34:73-76.
    • (1997) J Med Genet , vol.34 , pp. 73-76
    • Jaeken, J.1    Matthijs, G.2    Barone, R.3    Carchon, H.4
  • 24
    • 0001822246 scopus 로고    scopus 로고
    • Phosphomannosmutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type 1
    • Jaeken J, Besley G, Buist N, et al: Phosphomannosmutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis 1996;19:6.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 6
    • Jaeken, J.1    Besley, G.2    Buist, N.3
  • 25
    • 0031005847 scopus 로고    scopus 로고
    • Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome)
    • Matthijs G, Schollen E, Pardon E, et al: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome). Nat Genet 1997;16:88-92.
    • (1997) Nat Genet , vol.16 , pp. 88-92
    • Matthijs, G.1    Schollen, E.2    Pardon, E.3
  • 26
    • 0031974540 scopus 로고    scopus 로고
    • Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: The sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene
    • Schollen E, Pardon E, Heykants L, et al: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: The sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum Mol Genet 1998; 7:157-164.
    • (1998) Hum Mol Genet , vol.7 , pp. 157-164
    • Schollen, E.1    Pardon, E.2    Heykants, L.3
  • 27
    • 0000070998 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
    • Niehues R, Hasilik M, Alton G, et al: Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998;101:1414-1420.
    • (1998) J Clin Invest , vol.101 , pp. 1414-1420
    • Niehues, R.1    Hasilik, M.2    Alton, G.3
  • 28
    • 0032492583 scopus 로고    scopus 로고
    • A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
    • de Koning TJ, Dorland L, van Diggelen OP, et al: A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 1998;245:38-42.
    • (1998) Biochem Biophys Res Commun , vol.245 , pp. 38-42
    • De Koning, T.J.1    Dorland, L.2    Van Diggelen, O.P.3
  • 29
    • 0002522239 scopus 로고    scopus 로고
    • Hyperinsulinemic hypoglycemia as a presenting symptom in phosphomannose isomerase deficiency: A new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose
    • De Lonlay P, Cuer M, Barrot S, et al: Hyperinsulinemic hypoglycemia as a presenting symptom in phosphomannose isomerase deficiency: A new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose, abstract. J Inherit Metab Dis 1998;21(Suppl 2):96.
    • (1998) J Inherit Metab Dis , vol.21 , Issue.SUPPL. 2 , pp. 96
    • De Lonlay, P.1    Cuer, M.2    Barrot, S.3
  • 30
    • 0001903288 scopus 로고    scopus 로고
    • Two more Dutch cases of CDG syndrome 1b: Phosphomannose isomerase deficiency
    • van Diggelen OP, Maat-Kievet JA, de Klerk JBC, et al: Two more Dutch cases of CDG syndrome 1b: Phosphomannose isomerase deficiency, abstract. J Inherit Metab Dis 1998;21(Suppl 2):97.
    • (1998) J Inherit Metab Dis , vol.21 , Issue.SUPPL. 2 , pp. 97
    • Van Diggelen, O.P.1    Maat-Kievet, J.A.2    De Klerk, J.B.C.3
  • 31
    • 0028358262 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease
    • Stibler H, Blennow G, Kristiansson B, et al: Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 1994;57: 552-556.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 552-556
    • Stibler, H.1    Blennow, G.2    Kristiansson, B.3
  • 32
    • 0029008612 scopus 로고
    • Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
    • Kristiansson B, Stibler H, Wide L: Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr 1995;84:655-659.
    • (1995) Acta Paediatr , vol.84 , pp. 655-659
    • Kristiansson, B.1    Stibler, H.2    Wide, L.3
  • 33
    • 0028791186 scopus 로고
    • Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I
    • Macchia PE, Harrison HH, Scherberg NH, et al: Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab 1995;80:3744-3749.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3744-3749
    • Macchia, P.E.1    Harrison, H.H.2    Scherberg, N.H.3
  • 34
    • 0031919025 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome type I: A new cause of dysostosis multiplex
    • Garel C, Baumann C, Besnard M, et al: Carbohydrate-deficient glycoprotein syndrome type I: A new cause of dysostosis multiplex. Skeletal Radiol 1998;27:43-45.
    • (1998) Skeletal Radiol , vol.27 , pp. 43-45
    • Garel, C.1    Baumann, C.2    Besnard, M.3
  • 35
    • 0030000096 scopus 로고    scopus 로고
    • Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I
    • Stibler H, Holzbach U, Tengborn L, Kristiansson B: Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I. Blood Coagul Fibrinolysis 1996;7:118-126.
    • (1996) Blood Coagul Fibrinolysis , vol.7 , pp. 118-126
    • Stibler, H.1    Holzbach, U.2    Tengborn, L.3    Kristiansson, B.4
  • 36
    • 0032889255 scopus 로고    scopus 로고
    • Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature
    • Young G, Driscoll MC: Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature. Am J Hematol 1999;60:66-69.
    • (1999) Am J Hematol , vol.60 , pp. 66-69
    • Young, G.1    Driscoll, M.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.