Congenital disorders of glycosylation: other causes of ichthyosis
نویسندگان
چکیده
منابع مشابه
Congenital disorders of glycosylation.
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An effic...
متن کاملReport of a Congenital Ichthyosis
A case of congenital ichthiosis 1s presented. Histologic pattern and the treatment is discussed.
متن کاملCongenital disorders of glycosylation (CDG)
Congenital Disorders of Glycosylation (CDG) comprise permanently expanding group of inherited diseases caused by defects of multiple glycosylation pathways which disturb structure of many glycoconjugates classes. The first patients were described by Jaak Jaeken in 1980, in 1984 simple test was implemented to identify new cases. In 1995, fifteen years later, enzymatic defect was revealed as phos...
متن کاملCongenital Disorders of Glycosylation: A Review
Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening al...
متن کاملAutosomal recessive congenital ichthyosis.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.168