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osteogenesis imperfecta/carbohydrate
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Osteogenesis imperfecta type II: microvascular changes in the CNS.
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Osteogenesis imperfecta, type II is a rare hereditary disease of connective tissue with abnormalities of type I collagen. It is invariably fatal in the neonatal period. We report 2 cases with abnormal cerebral cortical white matter consisting of abundant, perivenous microcalcifications, proliferated
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
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Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a
COOH-terminal propeptides of the major human procollagens. Structural, functional and genetic comparisons.
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The sequences of the carboxy-terminal extensions (COOH-propeptides) of at least one chain of all of the major human procollagens have only recently been deduced, and include those of the interstitial (alpha 1(I), alpha 2(I), alpha 1(II), alpha 1(III)), basement membrane (alpha 1(IV)) and
[The metabolic basis of generalized skeletal dysplasia (author's transl)].
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Numerous control systems are involved in the growth and differentiation of chondro-osseous tissue. Theoretically, the failure of each single step will result in a peculiar skeletal dysplasia. The resulting disorders are caused by errors in the metabolism of collagen, minerals, complex carbohydrates
Dentinogenesis imperfecta: evidence of qualitative alteration in the organic dentin matrix.
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Deciduous teeth affected by dentinogenesis imperfecta were obtained from two patients with osteogenesis imperfecta. Electronmicroscopy of the dentin revealed some structural alterations. The striation of the collagen fibrils was not clear, and the crystals were less dense than in normal dentin. The
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