dysostoses/carbohydrate

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9 matokeo

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.

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Ingia / Ingia

We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated

[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and growth retardation (Shwachman syndrome) with transient disturbances of carbohydrate metabolism].

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Ingia / Ingia

Catabolic disorders of complex carbohydrates.

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Ingia / Ingia

The various disorders caused by heritable defects in complex carbohydrate catabolism comprise two groups: (A) The mucopolysaccharidoses, six main and several subtypes are described. (B) The mucolipidoses (oligosaccharidoses), at least nine types being recognized. Whilst most of these are now well

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional

[MITOCHONDRIAL DYSFUNCTION: MODERN ASPECTS OF THERAPY (REVIEW)].

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Ingia / Ingia

Mitochondrial diseases are considered as one of the major problems of modern interdisciplinary neonatology and pediatrics. Mitochondrial pathology can be revealed as refractory myoclonic or multifocal seizures, craniofacial dysostosis, dysmetabolic manifestations and respiratory disorders. Central

MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.

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Ingia / Ingia

Fucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme l-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of

Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.

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Ingia / Ingia

Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. In this paper, we describe the

Pattern recognition in bone dysplasias.

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Ingia / Ingia

Genetically different bone dysplasias may manifest themselves in similar patterns of skeletal abnormalities. It is proposed to group these similar dysplasias in 'families' for two reasons: 1 The knowledge of developmental patterns shared by different genetic disorders cautions the diagnostician and

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