메뉴 건너뛰기




Volumn 14, Issue 2, 2000, Pages 219-250

Hereditary disorders mimicking and/or causing premature osteoarthritis

Author keywords

Familial chondrocalcinosis; Hereditary osteochondrodysplasias; Ochronosis; Premature osteoarthritis; Wilson's disease

Indexed keywords

COLLAGEN; COPPER; GLYCOSAMINOGLYCAN; HOMOGENTISIC ACID; MATRIX PROTEIN;

EID: 0343496973     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1053/berh.2000.0063     Document Type: Article
Times cited : (28)

References (130)
  • 3
    • 0019920601 scopus 로고
    • Spondyloepiphyseal dysplasia tarda with progressive arthropathy. A 'new' disorder of autosomal recessive inheritence
    • Wynne-Davies R, Hall C, Ansell B M. Spondyloepiphyseal dysplasia tarda with progressive arthropathy. A 'new' disorder of autosomal recessive inheritence. Journal of Bone and Joint Surgery. 64B:1982;442-445.
    • (1982) Journal of Bone and Joint Surgery , vol.64 , pp. 442-445
    • Wynne-Davies, R.1    Hall, C.2    Ansell, B.M.3
  • 4
    • 0031947369 scopus 로고    scopus 로고
    • The camptodactily-arthropathy-coxa vara-pericarditis syndrome
    • Bahabri S A, Suwairi W M, Laxer R M. The camptodactily-arthropathy-coxa vara-pericarditis syndrome. Arthritis and Rheumatism. 41:1998;730-735.
    • (1998) Arthritis and Rheumatism , vol.41 , pp. 730-735
    • Bahabri, S.A.1    Suwairi, W.M.2    Laxer, R.M.3
  • 6
    • 0031029536 scopus 로고    scopus 로고
    • Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI
    • Crawley A C, Niedzielski K H, Isaac E I. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. Journal of Clinical Investigation. 99:1997;651-662.
    • (1997) Journal of Clinical Investigation , vol.99 , pp. 651-662
    • Crawley, A.C.1    Niedzielski, K.H.2    Isaac, E.I.3
  • 7
    • 0029918985 scopus 로고    scopus 로고
    • Bone marrow transplantation in cartilage-hair hypoplasia: Correction of immunodeficiency but not of the chondrodysplasia
    • Berthet F, Siegrist C A, Orsahin H. Bone marrow transplantation in cartilage-hair hypoplasia: correction of immunodeficiency but not of the chondrodysplasia. European Journal of Pediatrics. 155:1996;286-290.
    • (1996) European Journal of Pediatrics , vol.155 , pp. 286-290
    • Berthet, F.1    Siegrist, C.A.2    Orsahin, H.3
  • 8
    • 0032909039 scopus 로고    scopus 로고
    • Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidoses type II. Hunter's syndrome
    • Stronchen D F, Hubel A, Shankar S R. Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidoses type II. Hunter's syndrome. Blood Components. 39:1999;343-350.
    • (1999) Blood Components , vol.39 , pp. 343-350
    • Stronchen, D.F.1    Hubel, A.2    Shankar, S.R.3
  • 10
    • 0033035478 scopus 로고    scopus 로고
    • Articular cartilage repair: Are the intrinsic biological constraints undermining this process insuperable?
    • Hunziker E B. Articular cartilage repair: are the intrinsic biological constraints undermining this process insuperable? Osteoarthritis and Cartilage. 7:1999;15-28.
    • (1999) Osteoarthritis and Cartilage , vol.7 , pp. 15-28
    • Hunziker, E.B.1
  • 11
    • 0033060984 scopus 로고    scopus 로고
    • Biomechanics of integrative cartilage repair
    • Ahsan T, Sah R L. Biomechanics of integrative cartilage repair. Osteoarthritis and Cartilage. 7:1999;29-40.
    • (1999) Osteoarthritis and Cartilage , vol.7 , pp. 29-40
    • Ahsan, T.1    Sah, R.L.2
  • 12
    • 85031580273 scopus 로고    scopus 로고
    • Cartilage and chondrocyte transplantation and current concept of cartilage repair
    • Hangody L, Szerb I, Sükösd L. Cartilage and chondrocyte transplantation and current concept of cartilage repair. APLAR Journal of Rheumatology. 2:1998;179-185.
    • (1998) APLAR Journal of Rheumatology , vol.2 , pp. 179-185
    • Hangody, L.1    Szerb, I.2    Sükösd, L.3
  • 14
    • 0028950172 scopus 로고
    • Heritable diseases of cartilage caused by mutations in collagen genes
    • Williams C J, Jimenez S A. Heritable diseases of cartilage caused by mutations in collagen genes. Journal of Rheumatology. 22:1995;28-33.
    • (1995) Journal of Rheumatology , vol.22 , pp. 28-33
    • Williams, C.J.1    Jimenez, S.A.2
  • 15
    • 0029135314 scopus 로고
    • Identification of COL2A1 gene mutations with chondrodysplasias and familial osteoarthritis
    • Rivaniemi P, Korkko I, Bonaventure J. Identification of COL2A1 gene mutations with chondrodysplasias and familial osteoarthritis. Arthritis and Rheumatism. 38:1995;999-1004.
    • (1995) Arthritis and Rheumatism , vol.38 , pp. 999-1004
    • Rivaniemi, P.1    Korkko, I.2    Bonaventure, J.3
  • 16
    • 0033609802 scopus 로고    scopus 로고
    • Identification of nine novel mutations in cartilage oligometric matrix proteins in patients with pseudochondroplasia on multiple epiphyseal dysplasia
    • Deere M, Sanford T, Francomano C A. Identification of nine novel mutations in cartilage oligometric matrix proteins in patients with pseudochondroplasia on multiple epiphyseal dysplasia. American Journal of Medical Genetics. 85:1999;486-490.
    • (1999) American Journal of Medical Genetics , vol.85 , pp. 486-490
    • Deere, M.1    Sanford, T.2    Francomano, C.A.3
  • 17
    • 0027964261 scopus 로고
    • Mutation of the transmembrane domain of FGFR3 causes the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson L M, Zhu Y Z. Mutation of the transmembrane domain of FGFR3 causes the most common genetic form of dwarfism, achondroplasia. Cell. 78:1994;335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.Z.3
  • 19
    • 0032471432 scopus 로고    scopus 로고
    • Mutation of type X collagene gene (COLIOA1) causes spondylometaphyseal dysplasia
    • Ikegawa S, Nishimura G, Nagal T. Mutation of type X collagene gene (COLIOA1) causes spondylometaphyseal dysplasia. American Journal of Human Genetics. 63:1998;1659-1662.
    • (1998) American Journal of Human Genetics , vol.63 , pp. 1659-1662
    • Ikegawa, S.1    Nishimura, G.2    Nagal, T.3
  • 20
    • 0031726203 scopus 로고    scopus 로고
    • The type XI collagenopathies
    • Spranger J. The type XI collagenopathies. Pediatric Radiology. 28:1998;745-750.
    • (1998) Pediatric Radiology , vol.28 , pp. 745-750
    • Spranger, J.1
  • 21
    • 0027509678 scopus 로고
    • Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing aI(IX) collagen chains with a central detection
    • Nakata K, Ono K, Miyazak J. Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing aI(IX) collagen chains with a central detection. Proceedings of the National Academy of Sciences of the USA. 90:1993;2870-2874.
    • (1993) Proceedings of the National Academy of Sciences of the USA , vol.90 , pp. 2870-2874
    • Nakata, K.1    Ono, K.2    Miyazak, J.3
  • 22
    • 0031726941 scopus 로고    scopus 로고
    • Parathyroid hormone (PTH)/OTHrP receptor mutation in human chondroplasia
    • Nissenson R A. Parathyroid hormone (PTH)/OTHrP receptor mutation in human chondroplasia. Endocrinology. 139:1998;4753-4755.
    • (1998) Endocrinology , vol.139 , pp. 4753-4755
    • Nissenson, R.A.1
  • 23
    • 0031725947 scopus 로고    scopus 로고
    • Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondroplasia
    • Karaplis A C, He B, Nguyen M TA. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondroplasia. Endocrinology. 139:1998;5255-5258.
    • (1998) Endocrinology , vol.139 , pp. 5255-5258
    • Karaplis, A.C.1    He, B.2    Nguyen, M.T.3
  • 24
    • 0029849784 scopus 로고    scopus 로고
    • Constitutively active receptors for parathyroid hormone and parathyroid hormone related peptide in Jansen's metaphyseal chrondrodysplasia
    • Schipani E, Langman C B, Parfitt A M. Constitutively active receptors for parathyroid hormone and parathyroid hormone related peptide in Jansen's metaphyseal chrondrodysplasia. New England Journal of Medicine. 335:1996;708-714.
    • (1996) New England Journal of Medicine , vol.335 , pp. 708-714
    • Schipani, E.1    Langman, C.B.2    Parfitt, A.M.3
  • 26
    • 0031453401 scopus 로고    scopus 로고
    • What is the evidence that osteoarthritis is genetically determined?
    • Cicuttini F M, Spector T D. What is the evidence that osteoarthritis is genetically determined? Baillière's Clinical Rheumatology. 11:1997;657-669.
    • (1997) Baillière's Clinical Rheumatology , vol.11 , pp. 657-669
    • Cicuttini, F.M.1    Spector, T.D.2
  • 29
    • 0032706080 scopus 로고    scopus 로고
    • Twins and the genetic architectures of osteoarthritis
    • MacGregor A J, Spector T D. Twins and the genetic architectures of osteoarthritis. Rheumatology. 38:1999;583-588.
    • (1999) Rheumatology , vol.38 , pp. 583-588
    • MacGregor, A.J.1    Spector, T.D.2
  • 31
    • 0030886744 scopus 로고    scopus 로고
    • Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene
    • Keen R W, Hart D J, Lanchbury J S, Spector T D. Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis and Rheumatism. 40:1997;1444-1449.
    • (1997) Arthritis and Rheumatism , vol.40 , pp. 1444-1449
    • Keen, R.W.1    Hart, D.J.2    Lanchbury, J.S.3    Spector, T.D.4
  • 32
    • 0018905381 scopus 로고
    • Chondrodysplasia punctata after warfarin in early pregnancy
    • Whitfield W F. Chondrodysplasia punctata after warfarin in early pregnancy. Archives of Disease in Childhood. 55:1980;139-142.
    • (1980) Archives of Disease in Childhood , vol.55 , pp. 139-142
    • Whitfield, W.F.1
  • 33
    • 0021877721 scopus 로고
    • Natural history of the fetal alcohol syndrome: A 10 year follow up of 11 patients
    • Stressguth A P, Clarren S K, Jones K L. Natural history of the fetal alcohol syndrome: a 10 year follow up of 11 patients. Lancet. ii:1985;85-86.
    • (1985) Lancet , vol.2 , pp. 85-86
    • Stressguth, A.P.1    Clarren, S.K.2    Jones, K.L.3
  • 34
    • 0031853817 scopus 로고    scopus 로고
    • Maternal systemic lupus erythematosus and chrondrodysplasia punctata in two sibs: Phenocopy of coincidence?
    • Elcioglu N, Hall C M. Maternal systemic lupus erythematosus and chrondrodysplasia punctata in two sibs: phenocopy of coincidence? Journal of Medical Genetics. 35:1998;690-696.
    • (1998) Journal of Medical Genetics , vol.35 , pp. 690-696
    • Elcioglu, N.1    Hall, C.M.2
  • 36
    • 0018379162 scopus 로고
    • Achondroplasia and hyphochondroplasia. Comments on frequency, mutation rate and radiological features in skull and spine
    • Oberklaid F, Danks D M, Jensen F. Achondroplasia and hyphochondroplasia. Comments on frequency, mutation rate and radiological features in skull and spine. Journal of Medical Genetics. 16:1979;140-146.
    • (1979) Journal of Medical Genetics , vol.16 , pp. 140-146
    • Oberklaid, F.1    Danks, D.M.2    Jensen, F.3
  • 43
    • 0002718848 scopus 로고
    • Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses
    • D. Resnik. Philadelphia: WB Saunders
    • McAlister W H, Hermann T E. Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses. Resnik D. Diagnosis of Bone and Joint Disorders. 1995;4163-4244 WB Saunders, Philadelphia.
    • (1995) Diagnosis of Bone and Joint Disorders , pp. 4163-4244
    • McAlister, W.H.1    Hermann, T.E.2
  • 44
    • 0001840141 scopus 로고
    • Calcium pyrophosphate dihydrate (CPPD) and crystal deposition disease
    • D. Resnik. Philadelphia: WB Saunders
    • Resnik D, Niwayama G. Calcium pyrophosphate dihydrate (CPPD) and crystal deposition disease. Resnik D. Diagnosis of Bone and Joint Disorders. 1995;1556-1614 WB Saunders, Philadelphia.
    • (1995) Diagnosis of Bone and Joint Disorders , pp. 1556-1614
    • Resnik, D.1    Niwayama, G.2
  • 46
    • 0032420486 scopus 로고    scopus 로고
    • Novel and recurrent COMP (cartilage oligomeric matrix protein) matiation in pseudochondroplasia and multiple epiphyseal dysplasia
    • Ikegawa S, Okashi H, Nishimura G. Novel and recurrent COMP (cartilage oligomeric matrix protein) matiation in pseudochondroplasia and multiple epiphyseal dysplasia. Human Genetics. 103:1998;633-638.
    • (1998) Human Genetics , vol.103 , pp. 633-638
    • Ikegawa, S.1    Okashi, H.2    Nishimura, G.3
  • 48
    • 0023694877 scopus 로고
    • Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee
    • Versteylen R J, Zwemmer A, Lovié C AM, Schuur K H. Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Skeletal Radiology. 17:1988;407-412.
    • (1988) Skeletal Radiology , vol.17 , pp. 407-412
    • Versteylen, R.J.1    Zwemmer, A.2    Lovié, C.A.3    Schuur, K.H.4
  • 50
    • 0031791837 scopus 로고    scopus 로고
    • Genotype phenotype correlation in achondroplasia and hypochondroplasia
    • Matsui Y, Yasui N, Kimura T. Genotype phenotype correlation in achondroplasia and hypochondroplasia. Journal of Bone and Joint Surgery. 80B:1998;1052-1056.
    • (1998) Journal of Bone and Joint Surgery , vol.80 , pp. 1052-1056
    • Matsui, Y.1    Yasui, N.2    Kimura, T.3
  • 51
    • 0033009736 scopus 로고    scopus 로고
    • Molecular defects in achondroplasia and the effects of growth hormone treatment
    • Seiko Y, Morawake T, Tanaka H. Molecular defects in achondroplasia and the effects of growth hormone treatment. Acta Pediatrica. 88:1999;118-120.
    • (1999) Acta Pediatrica , vol.88 , pp. 118-120
    • Seiko, Y.1    Morawake, T.2    Tanaka, H.3
  • 52
    • 0032231407 scopus 로고    scopus 로고
    • Mutations in fibroblast growth factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    • Wilkin D J, Szabó J K, Cameron R. Mutations in fibroblast growth factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. American Journal of Human Genetics. 63:1998;711-716.
    • (1998) American Journal of Human Genetics , vol.63 , pp. 711-716
    • Wilkin, D.J.1    Szabó, J.K.2    Cameron, R.3
  • 53
    • 0032570159 scopus 로고    scopus 로고
    • Achondroplasia: A case of neglect?
    • Young I D. Achondroplasia: a case of neglect? Lancet. 352:1998;1950-1951.
    • (1998) Lancet , vol.352 , pp. 1950-1951
    • Young, I.D.1
  • 54
    • 0031819322 scopus 로고    scopus 로고
    • Medical complications of achondroplasia: A multicentre patient review
    • Hunter A GW, Bankier A, Rogers J G. Medical complications of achondroplasia: a multicentre patient review. Journal of Medical Genetics. 35:1998;705-712.
    • (1998) Journal of Medical Genetics , vol.35 , pp. 705-712
    • Hunter, A.G.1    Bankier, A.2    Rogers, J.G.3
  • 56
    • 0014735194 scopus 로고
    • Spondyloepiphyseal dysplasia congenita
    • Spranger J W, Langer L O. Spondyloepiphyseal dysplasia congenita. Radiology. 94:1970;313-322.
    • (1970) Radiology , vol.94 , pp. 313-322
    • Spranger, J.W.1    Langer, L.O.2
  • 57
    • 0025282846 scopus 로고
    • Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1)
    • Anderson I J, Goldberg R B, Marion R W. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2A1). American Journal of Human Genetics. 46:1990;896-901.
    • (1990) American Journal of Human Genetics , vol.46 , pp. 896-901
    • Anderson, I.J.1    Goldberg, R.B.2    Marion, R.W.3
  • 58
    • 0027474343 scopus 로고
    • The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the α1(II) clain type II collagen
    • Cole W G, Hall R K, Rogers J G. The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the α1(II) clain type II collagen. Journal of Medical Genetics. 30:1993;27-38.
    • (1993) Journal of Medical Genetics , vol.30 , pp. 27-38
    • Cole, W.G.1    Hall, R.K.2    Rogers, J.G.3
  • 59
    • 0343833895 scopus 로고
    • Spondyloepiphyseal dysplasia tarda
    • Langer L O. Spondyloepiphyseal dysplasia tarda. Radiology. 82:1964;833-839.
    • (1964) Radiology , vol.82 , pp. 833-839
    • Langer, L.O.1
  • 60
    • 0032954584 scopus 로고    scopus 로고
    • X-linked recessive spondylopeiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature
    • Whyte M P, Gottesman G S, Eddy M C, McAlister W H. X-linked recessive spondylopeiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore). 78:1999;9-25.
    • (1999) Medicine (Baltimore) , vol.78 , pp. 9-25
    • Whyte, M.P.1    Gottesman, G.S.2    Eddy, M.C.3    McAlister, W.H.4
  • 61
    • 0019209281 scopus 로고
    • Clinical and genetic aspects of Conradi-Hünermann disease
    • Silengo M C, Luzatti L. Clinical and genetic aspects of Conradi-Hünermann disease. Journal of Pediatrics. 97:1980;911-917.
    • (1980) Journal of Pediatrics , vol.97 , pp. 911-917
    • Silengo, M.C.1    Luzatti, L.2
  • 62
    • 0032987971 scopus 로고    scopus 로고
    • Mutations in the gene encoding 3 betahydroxysteroid-delta 8m delta-7 isomerase cause X-linked dominant Conradi-Hünermann syndrome
    • Braverman N, Lin P, Moebius F F. Mutations in the gene encoding 3 betahydroxysteroid-delta 8m delta-7 isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nature Genetics. 22:1999;291-294.
    • (1999) Nature Genetics , vol.22 , pp. 291-294
    • Braverman, N.1    Lin, P.2    Moebius, F.F.3
  • 64
    • 0032528563 scopus 로고    scopus 로고
    • Incorporation of structurally defective type II collagen into cartilage matrix in Kniest chondroplasia
    • Fernandes R J, Wilkin D J, Weiss M A. Incorporation of structurally defective type II collagen into cartilage matrix in Kniest chondroplasia. Archives of Biochemistry and Biophysics. 355:1998;282-290.
    • (1998) Archives of Biochemistry and Biophysics , vol.355 , pp. 282-290
    • Fernandes, R.J.1    Wilkin, D.J.2    Weiss, M.A.3
  • 65
    • 0032906299 scopus 로고    scopus 로고
    • Neonatal intramuscular injection with recombinant eden-associated virus results in prolonged β-glukuronidase expression in situ, and correction of liver pathology in mucopolysaccharidosis type mice
    • Baly T M, Okuyama T, Vogler C. Neonatal intramuscular injection with recombinant eden-associated virus results in prolonged β-glukuronidase expression in situ, and correction of liver pathology in mucopolysaccharidosis type mice. Human Gene Therapy. 10:1999;85-94.
    • (1999) Human Gene Therapy , vol.10 , pp. 85-94
    • Baly, T.M.1    Okuyama, T.2    Vogler, C.3
  • 66
    • 85058200531 scopus 로고
    • Allogeneic bone marrow transplantation for lysosomal storage disease
    • Hoogenbrugge P M, Bruwer O F, Bordigani P. Allogeneic bone marrow transplantation for lysosomal storage disease. Lancet. 345:1995;398-1402.
    • (1995) Lancet , vol.345 , pp. 398-1402
    • Hoogenbrugge, P.M.1    Bruwer, O.F.2    Bordigani, P.3
  • 67
    • 0032197968 scopus 로고    scopus 로고
    • The use of partially HLA-mismatched donors for allogeneic transplantations with mucopolysaccharidosis, I
    • Fleming D R, Henslee-Downey P J, Ciocci G. The use of partially HLA-mismatched donors for allogeneic transplantations with mucopolysaccharidosis, I. Pediatric Transplantation. 4:1998;299-304.
    • (1998) Pediatric Transplantation , vol.4 , pp. 299-304
    • Fleming, D.R.1    Henslee-Downey, P.J.2    Ciocci, G.3
  • 68
  • 70
    • 0033548550 scopus 로고    scopus 로고
    • Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type Schmid
    • McLaughlin S H, Conn S N, Bulleid N J. Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type Schmid. Journal of Biological Chemistry. 274:1999;7570-7575.
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 7570-7575
    • McLaughlin, S.H.1    Conn, S.N.2    Bulleid, N.J.3
  • 71
    • 0026793750 scopus 로고
    • Cartilage-hair hypoplasia in Finland: Epidemiological and genetic aspects of 107 patients
    • Mäkitie O. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. Journal of Medical Genetics. 29:1992;652-655.
    • (1992) Journal of Medical Genetics , vol.29 , pp. 652-655
    • Mäkitie, O.1
  • 72
    • 0031714502 scopus 로고    scopus 로고
    • Susceptibility to infections and in vitro immuno-functions in cartilage hair hypoplasia
    • Mäkitie O, Kaitila I, Savilakti E. Susceptibility to infections and in vitro immuno-functions in cartilage hair hypoplasia. European Journal of Pediatrics. 157:1998;816-820.
    • (1998) European Journal of Pediatrics , vol.157 , pp. 816-820
    • Mäkitie, O.1    Kaitila, I.2    Savilakti, E.3
  • 73
    • 0017099776 scopus 로고
    • The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency
    • Cederbaum S D, Kaitila I, Rimoin D L, Stiehm E R. The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. Journal of Pediatrics. 89:1976;737-742.
    • (1976) Journal of Pediatrics , vol.89 , pp. 737-742
    • Cederbaum, S.D.1    Kaitila, I.2    Rimoin, D.L.3    Stiehm, E.R.4
  • 74
    • 0021888349 scopus 로고
    • Pathologic findings in adenosine deaminase deficient severe combined immunodeficiency. 1. Kidney, adrenal and chondroosseus alterations
    • Rateck H, Greco M A, Galb G. Pathologic findings in adenosine deaminase deficient severe combined immunodeficiency. 1. Kidney, adrenal and chondroosseus alterations. American Journal of Pathology. 120:1985;157-160.
    • (1985) American Journal of Pathology , vol.120 , pp. 157-160
    • Rateck, H.1    Greco, M.A.2    Galb, G.3
  • 75
    • 0026003198 scopus 로고
    • Chondrosseus dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency
    • Chakravarti V S, Borns P, Lobell J, Douglas S D. Chondrosseus dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency. Pediatric Radiology. 21:1991;447-448.
    • (1991) Pediatric Radiology , vol.21 , pp. 447-448
    • Chakravarti, V.S.1    Borns, P.2    Lobell, J.3    Douglas, S.D.4
  • 76
    • 0028882177 scopus 로고
    • X-linked hypophosphatemic rickets. A probably upper paleolithic case
    • Formicola V. X-linked hypophosphatemic rickets. A probably upper paleolithic case. American Journal of Physical Anthropology. 98:1995;403-409.
    • (1995) American Journal of Physical Anthropology , vol.98 , pp. 403-409
    • Formicola, V.1
  • 78
    • 9044237269 scopus 로고    scopus 로고
    • Clinical course of hypophosphatemic rickets in 23 adults
    • Ehrich J H, Berndt M, Lazivic D. Clinical course of hypophosphatemic rickets in 23 adults. Clinical Nephrology. 45:1996;33-41.
    • (1996) Clinical Nephrology , vol.45 , pp. 33-41
    • Ehrich, J.H.1    Berndt, M.2    Lazivic, D.3
  • 79
    • 0032424070 scopus 로고    scopus 로고
    • Successful treatment of familial X-linked hypophosphatemic osteomalacia with phosphate and high dose calcitriol
    • Radó J P, Haris Á, Szebenyi B. Successful treatment of familial X-linked hypophosphatemic osteomalacia with phosphate and high dose calcitriol. European Journal of Internal Medicine. 9:1998;185-186.
    • (1998) European Journal of Internal Medicine , vol.9 , pp. 185-186
    • Radó, J.P.1    Haris, Á.2    Szebenyi, B.3
  • 80
    • 0028291158 scopus 로고
    • Hereditary hypophosphatasia and hyperphosphatasia
    • Silve C. Hereditary hypophosphatasia and hyperphosphatasia. Current Opinion in Rheumatology. 6:1994;336-339.
    • (1994) Current Opinion in Rheumatology , vol.6 , pp. 336-339
    • Silve, C.1
  • 81
    • 0031759499 scopus 로고    scopus 로고
    • Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients
    • Goseki-Sone M, Orimo H, Iimura H. Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. Journal of Bone and Mineral Research. 13:1998;1827-1834.
    • (1998) Journal of Bone and Mineral Research , vol.13 , pp. 1827-1834
    • Goseki-Sone, M.1    Orimo, H.2    Iimura, H.3
  • 82
    • 0032589092 scopus 로고    scopus 로고
    • Correlations of genotype and phenotype in hypophosphatasia
    • Zurutuza L, Müller F, Gibrat J F. Correlations of genotype and phenotype in hypophosphatasia. Human Molecular Genetics. 8:1999;1039-1046.
    • (1999) Human Molecular Genetics , vol.8 , pp. 1039-1046
    • Zurutuza, L.1    Müller, F.2    Gibrat, J.F.3
  • 85
    • 0018221090 scopus 로고
    • Pathologic features of familial arthropathy associated with congenital flexion contractures of the fingers
    • Athreya B H, Schumacher H R. Pathologic features of familial arthropathy associated with congenital flexion contractures of the fingers. Arthritis and Rheumatism. 21:1978;429-437.
    • (1978) Arthritis and Rheumatism , vol.21 , pp. 429-437
    • Athreya, B.H.1    Schumacher, H.R.2
  • 86
    • 0028791416 scopus 로고
    • A syndrome with infantile contractures of fingers and toes in 2 sisters, 'familial fibrosing serositis'
    • Yerma U N, Misra R, Radhakrisnan S. A syndrome with infantile contractures of fingers and toes in 2 sisters, 'familial fibrosing serositis'. Journal of Rheumatology. 22:1995;2349-2355.
    • (1995) Journal of Rheumatology , vol.22 , pp. 2349-2355
    • Yerma, U.N.1    Misra, R.2    Radhakrisnan, S.3
  • 87
    • 0020546372 scopus 로고
    • Spondyloepiphyseal dysplasia tarda with progressive arthropathy
    • Kaibara N, Takagishi K, Katsuki I. Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Skeletal Radiology. 10:1983;13-16.
    • (1983) Skeletal Radiology , vol.10 , pp. 13-16
    • Kaibara, N.1    Takagishi, K.2    Katsuki, I.3
  • 88
    • 0031703710 scopus 로고    scopus 로고
    • Genetic linkage of progressive pseudorheumatoid dysplasia to a 3cM internal of chromosome 6q22
    • Fischer J, Urtizberea J A, Pavek S. Genetic linkage of progressive pseudorheumatoid dysplasia to a 3cM internal of chromosome 6q22. Human Genetics. 103:1998;60-64.
    • (1998) Human Genetics , vol.103 , pp. 60-64
    • Fischer, J.1    Urtizberea, J.A.2    Pavek, S.3
  • 89
    • 0031818446 scopus 로고    scopus 로고
    • Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene
    • el-Shanti H, Murray J C, Semina E V. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. European Journal of Human Genetics. 6:1998;251-256.
    • (1998) European Journal of Human Genetics , vol.6 , pp. 251-256
    • El-Shanti, H.1    Murray, J.C.2    Semina, E.V.3
  • 90
    • 0030850795 scopus 로고    scopus 로고
    • Progressive pseudorheumatoid dysplasia: Report of a family and review
    • el-Shanti H E, Omari H Z, Qubain H I. Progressive pseudorheumatoid dysplasia: report of a family and review. Journal of Medical Genetics. 34:1997;559-563.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 559-563
    • El-Shanti, H.E.1    Omari, H.Z.2    Qubain, H.I.3
  • 91
    • 0020676171 scopus 로고
    • The nail-patella syndrome. A report of two cases and literature review
    • Raman D, Haslock I. The nail-patella syndrome. A report of two cases and literature review. British Journal of Rheumatology. 22:1983;41-46.
    • (1983) British Journal of Rheumatology , vol.22 , pp. 41-46
    • Raman, D.1    Haslock, I.2
  • 93
    • 0033362050 scopus 로고    scopus 로고
    • Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
    • Mangino M, Sanchez O, Torente I. Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. American Journal of Human Genetics. 65:1999;441-447.
    • (1999) American Journal of Human Genetics , vol.65 , pp. 441-447
    • Mangino, M.1    Sanchez, O.2    Torente, I.3
  • 94
    • 50749093820 scopus 로고
    • The incidence of alkaptonuria: A study in clinical individuality
    • Garrod A E. The incidence of alkaptonuria: a study in clinical individuality. Lancet. 2:1902;1616-1620.
    • (1902) Lancet , vol.2 , pp. 1616-1620
    • Garrod, A.E.1
  • 95
    • 50249205715 scopus 로고
    • The Croonian Lectures on inborn errors of metabolism. Lecture II. Alkaptonuria
    • Garrod A E. The Croonian Lectures on inborn errors of metabolism. Lecture II. Alkaptonuria. Lancet. 2:1908;73-79.
    • (1908) Lancet , vol.2 , pp. 73-79
    • Garrod, A.E.1
  • 97
    • 0028089249 scopus 로고
    • The human gene for alkaptonuria (aku) maps to chromosome 3q
    • Janocha S, Wolz W, Srsen S. The human gene for alkaptonuria (aku) maps to chromosome 3q. Genomics. 19:1994;5-8.
    • (1994) Genomics , vol.19 , pp. 5-8
    • Janocha, S.1    Wolz, W.2    Srsen, S.3
  • 99
    • 0346928331 scopus 로고    scopus 로고
    • Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkoptonuria patients
    • Beltrán-Valero de Bernabé D, Granadino B, Chiarelli O. Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkoptonuria patients. American Journal of Human Genetics. 62:1998;776-784.
    • (1998) American Journal of Human Genetics , vol.62 , pp. 776-784
    • Beltrán-Valero De Bernabé, D.1    Granadino, B.2    Chiarelli, O.3
  • 100
    • 0033018977 scopus 로고    scopus 로고
    • Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
    • Felber U, Mutsch Y, Grehn F. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. British Journal of Ophthalmology. 83:1999;680-683.
    • (1999) British Journal of Ophthalmology , vol.83 , pp. 680-683
    • Felber, U.1    Mutsch, Y.2    Grehn, F.3
  • 102
    • 0032110173 scopus 로고    scopus 로고
    • Exogenous ochronosis from hydroquinone bleaching cream
    • Fishet A A. Exogenous ochronosis from hydroquinone bleaching cream. Cutis. 162:1998;11-12.
    • (1998) Cutis , vol.162 , pp. 11-12
    • Fishet, A.A.1
  • 105
    • 0007857855 scopus 로고
    • Studies of alkaptonuria: Inheritance of 47 cases in eight highly inter-related Dominican kindreds
    • Milch R A. Studies of alkaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. American Journal of Human Genetics. 12:1960;76-85.
    • (1960) American Journal of Human Genetics , vol.12 , pp. 76-85
    • Milch, R.A.1
  • 107
    • 0000345880 scopus 로고
    • Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy: Review of world literature (1584-1962)
    • O'Brien W M, La Du B N, Bunim J J. Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962). American Journal of Medicine. 34:1963;813-838.
    • (1963) American Journal of Medicine , vol.34 , pp. 813-838
    • O'Brien, W.M.1    La Du, B.N.2    Bunim, J.J.3
  • 108
    • 0002054584 scopus 로고
    • Alkaptonuria
    • C. R Scriver, A. L Beaudet, W. Sly, & D. Valle. New York: McGraw-Hill
    • La Du B N. Alkaptonuria. Scriver C R, Beaudet A L, Sly W, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1995;1371-1386 McGraw-Hill, New York.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1371-1386
    • La Du, B.N.1
  • 109
    • 0001103963 scopus 로고
    • Generalized ochronosis. Report of an instance in which it was misdiagnosed as melanosarcoma, with resultant enucleation of an eye
    • Skinsnes O K. Generalized ochronosis. Report of an instance in which it was misdiagnosed as melanosarcoma, with resultant enucleation of an eye. Archives of Pathology. 45:1948;552-558.
    • (1948) Archives of Pathology , vol.45 , pp. 552-558
    • Skinsnes, O.K.1
  • 111
    • 26544475385 scopus 로고
    • Synovial effusion: A nosographic and diagnostic study. Part I
    • Hüttl S. Synovial effusion: A nosographic and diagnostic study. Part I. Acta Rheumatica Balneologica Pistiniana. 5:1970;1-100.
    • (1970) Acta Rheumatica Balneologica Pistiniana , vol.5 , pp. 1-100
    • Hüttl, S.1
  • 112
    • 0016033906 scopus 로고
    • The ground pepper sign of synovial fluid: A new diagnostic feature of ochronosis
    • Hunter T, Gordon D A, Ogryzlo M A. The ground pepper sign of synovial fluid: a new diagnostic feature of ochronosis. Journal of Rheumatology. 1:1974;45-53.
    • (1974) Journal of Rheumatology , vol.1 , pp. 45-53
    • Hunter, T.1    Gordon, D.A.2    Ogryzlo, M.A.3
  • 114
    • 0031901425 scopus 로고    scopus 로고
    • Are we ready to try to cure alkaptonuria?
    • La Du B N. Are we ready to try to cure alkaptonuria? American Journal of Human Genetics. 62:1998;765-767.
    • (1998) American Journal of Human Genetics , vol.62 , pp. 765-767
    • La Du, B.N.1
  • 115
    • 0028158177 scopus 로고
    • AKU, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16
    • Montagutelli X, Lalouette A, Coudé M. AKU, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Genomics. 19:1994;9-11.
    • (1994) Genomics , vol.19 , pp. 9-11
    • Montagutelli, X.1    Lalouette, A.2    Coudé, M.3
  • 116
    • 0031089359 scopus 로고    scopus 로고
    • Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
    • Schmidt S R, Gehrig A, Koehler M R. Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse. Mammalian Genome. 8:1997;168-171.
    • (1997) Mammalian Genome , vol.8 , pp. 168-171
    • Schmidt, S.R.1    Gehrig, A.2    Koehler, M.R.3
  • 119
    • 0031985252 scopus 로고    scopus 로고
    • Pretreatment and posttreatment positron emission tomographic scan imaging in a 20 year old patient with Wilson's disease
    • Cordato D J, Fulham M J, Yiannakis C. Pretreatment and posttreatment positron emission tomographic scan imaging in a 20 year old patient with Wilson's disease. Movement Disorders. 13:1998;162-166.
    • (1998) Movement Disorders , vol.13 , pp. 162-166
    • Cordato, D.J.1    Fulham, M.J.2    Yiannakis, C.3
  • 121
    • 0023830737 scopus 로고
    • The arthropathy of Wilson's disease: Clinical and pathologic features
    • Menerey K A, Eider W, Brewer J G. The arthropathy of Wilson's disease: clinical and pathologic features. Journal of Rheumatology. 15:1988;331-337.
    • (1988) Journal of Rheumatology , vol.15 , pp. 331-337
    • Menerey, K.A.1    Eider, W.2    Brewer, J.G.3
  • 122
    • 77049283245 scopus 로고
    • Penicillamine, a new oral therapy for Wilson's disease
    • Walshe J M. Penicillamine, a new oral therapy for Wilson's disease. American Journal of Medicine. 21:1956;487-495.
    • (1956) American Journal of Medicine , vol.21 , pp. 487-495
    • Walshe, J.M.1
  • 123
    • 0027483379 scopus 로고
    • Chelation treatment of neurological Wilson's disease
    • Walshe J M, Yealland M. Chelation treatment of neurological Wilson's disease. Quarterly Journal of Medicine. 86:1993;197-204.
    • (1993) Quarterly Journal of Medicine , vol.86 , pp. 197-204
    • Walshe, J.M.1    Yealland, M.2
  • 125
    • 73649189184 scopus 로고
    • Chondrocalcinosis articularis. Clinical and radiological study
    • Zitnan D, Sitaj S. Chondrocalcinosis articularis. Clinical and radiological study. Annals of the Rheumatic Diseases. 22:1963;142-152.
    • (1963) Annals of the Rheumatic Diseases , vol.22 , pp. 142-152
    • Zitnan, D.1    Sitaj, S.2
  • 126
    • 0018901025 scopus 로고
    • Familial chondrocalcinosis. prevalence in Northern Spain and clinical features in five pedigrees
    • Rodrigez-Valverde V, Tinturé T, Zuniga M. Familial chondrocalcinosis. prevalence in Northern Spain and clinical features in five pedigrees. Arthritis and Rheumatism. 23:1980;471-478.
    • (1980) Arthritis and Rheumatism , vol.23 , pp. 471-478
    • Rodrigez-Valverde, V.1    Tinturé, T.2    Zuniga, M.3
  • 127
    • 0025831446 scopus 로고
    • Familial chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition in English families
    • Doherty M, Hamilton E, Henderson J. Familial chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition in English families. British Journal of Rheumatology. 30:1991;10-15.
    • (1991) British Journal of Rheumatology , vol.30 , pp. 10-15
    • Doherty, M.1    Hamilton, E.2    Henderson, J.3
  • 129
    • 0033364524 scopus 로고    scopus 로고
    • Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease
    • Andrew L J, Brancolini V, de la Pena L S. Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. American Journal of Human Genetics. 64:1999;136-145.
    • (1999) American Journal of Human Genetics , vol.64 , pp. 136-145
    • Andrew, L.J.1    Brancolini, V.2    De La Pena, L.S.3
  • 130


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.