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K. Kimata, H. Barrach, K. Brown, J. Pennypacker (1981)
Absence of proteoglycan core protein in cartilage from the cmd/cmd (cartilage matrix deficiency) mouse.The Journal of biological chemistry, 256 13
P. ao, S. Toledo, H. Nader, C. Dietrich (1973)
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).Biochemical medicine, 7 3
R. Orkin, Robert Pratt, George Martin (1976)
Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice.Developmental biology, 50 1
(1981)
Absence of proteoglycan core protein in cartilage from the andland (Cartilage matrix protein) mouse
(1992)
The incidence of CF in Sweden is close to 1 in 4000, corresponding to a carrier frequency of 1 /32
M. Shohat, R. Lachman, H. Gruber, D. Rimoin (1989)
Brachyolmia: radiographic and genetic evidence of heterogeneity.American journal of medical genetics, 33 2
W. Horton, L. Langer, D. Collins, C. Dwyer (1983)
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.American journal of medical genetics, 16 2
P. Mourão, S. Kato, P. Donnelly (1981)
Spondyloepiphyseal dysplasia, chondroitin sulfate type: a possible defect of PAPS--chondroitin sulfate sulfotransferase in humans.Biochemical and biophysical research communications, 98 2
(1983)
Brachyolmia, Hobaek type. A clinical, radiologic and histologic study
(1975)
La dysplasie spondylaire pure: un brachyolmie
S. Toledo, P. Mourão, C. Lamego, C. Alves, C. Dietrich, L. Assis, E. Mattar (1978)
Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.American journal of medical genetics, 2 4
(1989)
Results of studies in the Swedish population showed a AF508 frequency of 63.1% on CF chromosomes, with similar linkage disequilibrium data to those reported from other countries
N. Schwartz, V. Ostrowski, K. Brown, R. Pratt (1978)
Defective PAPS-synthesis in epiphyseal cartilage from brachymorphic mice.Biochemical and biophysical research communications, 82 1
A. Sewell, Christine Wern, B. Pontz (1991)
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretionClinical Genetics, 40
To the Editor: Recent findings of qualitative GAG anomalies in one case with SD/BO-type 1 reported by Sewell et al. (1991), serve to emphasize the importance of systematic GAG studies in this condition. These data support the findings in four siblings with SD we have studied (Toledo et al. 1978). As originally shown by Dietrichâs group (Mouriio et al. 1973), our cases presented low urinary levels of disaccharide-6-sulphate, derived from chondroitin-6-sulphate (C6S) associated to relatively high values of nonsulphated disaccharides, derived from nonsulphated chondroitin (COS). A. sulphate donor PAPS/C6S-~ulphotransferase (C6SST) system disturbance may explain these data (Mouriio et al. 1981, Sewell et al. 1991). An animal model whose phenotype resembles SDI BO also shows undersulphaf.ion of chondroitin sulphate (Orkin et al. 1976), due to a defect in the PAPS/C6SST system (Schwartz et al. 1978). The absence of proteoglycan core protein was described in another similar animal model (Kimata et al. 1981). Sewell et al. (1991) also reported no GAG disturbances in other adult BO cases they examined, and suggested that these findings were hardly surprising since GAG excretion significantly decreases with age. In other reports of BO cases, either urinary GAG were not studied (Horton et al. 1983)
Clinical Genetics – Wiley
Published: Oct 1, 1992
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