Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
نویسندگان
چکیده
منابع مشابه
Congenital 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 کاملAnesthetic Management of a Boy with Congenital Disorder of Glycosylation (CDG) I-x
Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describes the anesthetic management of 6 years old boy with CDG type I-x for upper airway surgery. We used a sevoflurane-nitrous oxide-remifentanil regime with no complications and good r...
متن کاملCongenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of proteins. CDG-Ij (DPAGT1-CDG) is caused by a defect of the human DPAGT1 (UDP-GlcN...
متن کاملA mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-link...
متن کاملIk 2009
KI 2009 is the 32nd edition of the German Conference on Artificial Intelligence, which traditionally brings together academic and industrial researchers from all areas of AI. The technical programme of KI 2009 will comprise paper and poster presentations and a variety of workshops and tutorials. We invite proposals for workshops to be held at the beginning of the conference. Eligible topics inc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2004
ISSN: 0002-9297
DOI: 10.1086/382493