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Volumn 17, Issue 6, 1998, Pages 664-668

Mild form of Maroteaux-Lamy syndrome: Corneal histopathology and ultrastructure

Author keywords

Cornea; Histopathology; Maroteaux Lamy syndrome; Mild type; Ultrastructure

Indexed keywords

ADULT; ARTICLE; CASE REPORT; COLLAGEN DEGRADATION; FEMALE; HISTOPATHOLOGY; HUMAN; INTRAOCULAR PRESSURE; MAROTEAUX LAMY SYNDROME; PENETRATING KERATOPLASTY; PRIORITY JOURNAL;

EID: 0031729576     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-199811000-00015     Document Type: Article
Times cited : (20)

References (25)
  • 1
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:1565-87.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1565-1587
    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 0002740259 scopus 로고    scopus 로고
    • Mucopolysaccharides and oligosaccharides
    • Fernandas J, Saudubray J-M, Van der Berghe G, eds. Berlin: Springer-Verlag
    • Beck M, Spranger J. Mucopolysaccharides and oligosaccharides. In: Fernandas J, Saudubray J-M, Van der Berghe G, eds. Inborn metabolic diseases: diagnosis and treatment. Berlin: Springer-Verlag, 1996:383-8.
    • (1996) Inborn Metabolic Diseases: Diagnosis and Treatment , pp. 383-388
    • Beck, M.1    Spranger, J.2
  • 3
    • 0018426070 scopus 로고
    • Corneal manifestations of the systemic mucopolysaccharidoses
    • Sugar J. Corneal manifestations of the systemic mucopolysaccharidoses. Ann Ophthalmol 1979;11:531-5.
    • (1979) Ann Ophthalmol , vol.11 , pp. 531-535
    • Sugar, J.1
  • 4
    • 0344653547 scopus 로고
    • Hurler's disease, Morquio's disease and related mucopolysaccharidoses
    • Maroteaux P, Lamy M. Hurler's disease, Morquio's disease and related mucopolysaccharidoses. J Pediatr 1965;67:312.
    • (1965) J Pediatr , vol.67 , pp. 312
    • Maroteaux, P.1    Lamy, M.2
  • 5
    • 0014028255 scopus 로고
    • La pseudo-polydystrophie de Hurler
    • Maroteaux P, Lamy P. La pseudo-polydystrophie de Hurler. Presse Med 1966;74:2889.
    • (1966) Presse Med , vol.74 , pp. 2889
    • Maroteaux, P.1    Lamy, P.2
  • 6
    • 0028117264 scopus 로고
    • Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Six unique arylsulfatase B gene alleles causing variable disease phenotypes
    • Isbrant D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am J Hum Genet 1994;54:454-63.
    • (1994) Am J Hum Genet , vol.54 , pp. 454-463
    • Isbrant, D.1    Arlt, G.2    Brooks, D.A.3    Hopwood, J.J.4    Von Figura, K.5    Peters, C.6
  • 7
    • 0029885020 scopus 로고    scopus 로고
    • Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
    • Litjens T, Brooks DA, Peters C, Gibson GJ, Hopwood JJ. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 1996;58: 1127-34.
    • (1996) Am J Hum Genet , vol.58 , pp. 1127-1134
    • Litjens, T.1    Brooks, D.A.2    Peters, C.3    Gibson, G.J.4    Hopwood, J.J.5
  • 9
    • 0016431897 scopus 로고
    • Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome
    • Shapira E, DeGregorio RR, Malaton R, Nadler Hl. Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. Biochem Biophys Res Commun 1975;62(2):448-55.
    • (1975) Biochem Biophys Res Commun , vol.62 , Issue.2 , pp. 448-455
    • Shapira, E.1    DeGregorio, R.R.2    Malaton, R.3    Nadler, Hl.4
  • 10
    • 0014799373 scopus 로고
    • Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI)
    • Goldberg MF, Scott CI, McKusick VA. Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Am J Ophthalmol 1970;69:969-75.
    • (1970) Am J Ophthalmol , vol.69 , pp. 969-975
    • Goldberg, M.F.1    Scott, C.I.2    McKusick, V.A.3
  • 12
    • 0024510533 scopus 로고
    • Mukopolysaccharidose Typ VI-A (Morbus Maroteaux-Lamy): Klinisch-pathologischer Fallbericht
    • Stürmer J. Mukopolysaccharidose Typ VI-A (Morbus Maroteaux-Lamy): klinisch-pathologischer Fallbericht. Klin Monatsbl Augenheilkd 1989;194:273-81.
    • (1989) Klin Monatsbl Augenheilkd , vol.194 , pp. 273-281
    • Stürmer, J.1
  • 13
    • 0023236384 scopus 로고
    • Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: Report of a case
    • Tamaki N, Kojima N, Tanimoto M, Suyama T, Matsumoto S. Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case. Neurosurgery 1987; 21(3):416-9.
    • (1987) Neurosurgery , vol.21 , Issue.3 , pp. 416-419
    • Tamaki, N.1    Kojima, N.2    Tanimoto, M.3    Suyama, T.4    Matsumoto, S.5
  • 14
    • 0022330496 scopus 로고
    • Occurrence of mucopolysaccharides in corneal grafts in the Maroteaux-Lamy syndrome
    • Schwartz MF, Werbin TP, Green WR. Occurrence of mucopolysaccharides in corneal grafts in the Maroteaux-Lamy syndrome. Cornea 1985;4:58-66.
    • (1985) Cornea , vol.4 , pp. 58-66
    • Schwartz, M.F.1    Werbin, T.P.2    Green, W.R.3
  • 15
    • 0016148555 scopus 로고
    • Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype)
    • Quigley HA, Kenyon KR. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype). Am J Ophthalmol 1974;77:809-18.
    • (1974) Am J Ophthalmol , vol.77 , pp. 809-818
    • Quigley, H.A.1    Kenyon, K.R.2
  • 17
    • 0027763491 scopus 로고
    • Aufklaren der transplantatnahen Wirtshornhaut nach perforierender Keratoplastik beim Maroteaux-Lamy-Syndrom (Mukopolysaccharidose Typ VI-A)
    • Nauman GOH, Rummelt V. Aufklaren der transplantatnahen Wirtshornhaut nach perforierender Keratoplastik beim Maroteaux-Lamy-Syndrom (Mukopolysaccharidose Typ VI-A). Klin Monatsbl Augenheilkd 1993;203:351-60.
    • (1993) Klin Monatsbl Augenheilkd , vol.203 , pp. 351-360
    • Nauman, G.O.H.1    Rummelt, V.2
  • 18
    • 0018718263 scopus 로고
    • Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome
    • Süveges I. Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome. Graefes Arch Clin Exp Ophthalmol 1979;212:29-39.
    • (1979) Graefes Arch Clin Exp Ophthalmol , vol.212 , pp. 29-39
    • Süveges, I.1
  • 19
    • 0015337444 scopus 로고
    • Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI): Histologic and ultrastructural report of two cases
    • Kenyon KR, Topping TM, Green RW, Maumenee AE. Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI): histologic and ultrastructural report of two cases. Am J Ophthalmol 1972;73:718-41.
    • (1972) Am J Ophthalmol , vol.73 , pp. 718-741
    • Kenyon, K.R.1    Topping, T.M.2    Green, R.W.3    Maumenee, A.E.4
  • 20
    • 0017758232 scopus 로고
    • Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome
    • Jezyk PF, Haskins ME, Patterson DF, Mellman WJ, Greenstein M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science 1977;198:834-6.
    • (1977) Science , vol.198 , pp. 834-836
    • Jezyk, P.F.1    Haskins, M.E.2    Patterson, D.F.3    Mellman, W.J.4    Greenstein, M.5
  • 21
    • 0021679851 scopus 로고
    • Correction of feline arylsulfatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation
    • Gasper PW, Thrall MA, Wenger DA, et al. Correction of feline arylsulfatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation. Nature 1984;312:467-9.
    • (1984) Nature , vol.312 , pp. 467-469
    • Gasper, P.W.1    Thrall, M.A.2    Wenger, D.A.3
  • 22
    • 15844392149 scopus 로고    scopus 로고
    • Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
    • Crawley AC, Brooks DA, Muller VJ, et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 1996;97(8):1864-73.
    • (1996) J Clin Invest , vol.97 , Issue.8 , pp. 1864-1873
    • Crawley, A.C.1    Brooks, D.A.2    Muller, V.J.3
  • 23
    • 0026627789 scopus 로고
    • Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage
    • Aguirre G, Raver I, Yanoff M, Haskins M. Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. Invest Ophthalmol Vis Sci 1992;33:2702-13.
    • (1992) Invest Ophthalmol Vis Sci , vol.33 , pp. 2702-2713
    • Aguirre, G.1    Raver, I.2    Yanoff, M.3    Haskins, M.4
  • 24
    • 0022478629 scopus 로고
    • Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): A status 40 months after BMT
    • McGovern MM, Ludman MD, Short MP, et al. Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): a status 40 months after BMT. Birth Defects 1986;22(1):41-53.
    • (1986) Birth Defects , vol.22 , Issue.1 , pp. 41-53
    • McGovern, M.M.1    Ludman, M.D.2    Short, M.P.3
  • 25
    • 0028125849 scopus 로고
    • Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases
    • Imaizumi M, Gushi K, Kurobane I, et al. Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases. Acta Paediatr Jpn 1994;36(1):30-6.
    • (1994) Acta Paediatr Jpn , vol.36 , Issue.1 , pp. 30-36
    • Imaizumi, M.1    Gushi, K.2    Kurobane, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.