osteochondrodysplasias/carbohydrate

Врската е зачувана во таблата со исечоци

НаписиКлинички испитувањаПатенти

Изберете вид на сортирање

10 резултати

[The metabolic basis of generalized skeletal dysplasia (author's transl)].

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

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

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

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

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

cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

We previously reported the cloning and sequencing of a 1.5-kilobase cDNA which encoded a portion of the chondroitin sulfate domain from the chick cartilage proteoglycan core protein and the localization of a species-specific monoclonal antibody epitope. Using polymerase chain reaction amplification

Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

BACKGROUND Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia.

Inherited disorders of glycoprotein synthesis: cell biological insights.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Disorders of glycoprotein synthesis have been described only recently, and few have been studied extensively at both the clinical and biochemical level. The identification and characterization of these rare diseases are important, not only for the patients and their families, but because they offer

Mucolipidosis I--a sialidosis.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

BACKGROUND A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-mutations

Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Patients with different types of mucopolysaccharidoses (MPS) lack specific lysosomal enzymes, which leads to tissue accumulation and urinary excretion of glycosaminoglycans (GAGs). Since little is known about the molecular composition of the excreted GAG fragments, we used two-dimensional

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. We have identified mutations

Pattern recognition in bone dysplasias.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

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

Придружете се на нашата
страница на Facebook

Herbal & Natural Medicine

Најкомплетната база на податоци за лековити билки поддржана од науката

Работи на 55 јазици
Лекови од билки поддржани од науката
Препознавање на билки по слика
Интерактивна GPS мапа - означете ги билките на локацијата (наскоро)
Прочитајте научни публикации поврзани со вашето пребарување
Пребарувајте лековити билки според нивните ефекти
Организирајте ги вашите интереси и останете во тек со истражувањето на новостите, клиничките испитувања и патентите

Напишете симптом или болест и прочитајте за билки што можат да помогнат, напишете билка и видете болести и симптоми против кои се користи.
* Сите информации се базираат на објавени научни истражувања