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Showing results for Congenital disorder of glycosylation, type ii AND humans[mesh] AND review[publication type]
Your search for Congenital disorder of glycosylation, type IIw AND humans[mesh] AND review[publication type] retrieved no results
Leukocyte adhesion deficiencies.
van de Vijver E, van den Berg TK, Kuijpers TW. van de Vijver E, et al. Hematol Oncol Clin North Am. 2013 Feb;27(1):101-16, viii. doi: 10.1016/j.hoc.2012.10.001. Epub 2012 Nov 13. Hematol Oncol Clin North Am. 2013. PMID: 23351991 Review.
Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. Leukocyte adhesion deficiencies (ie, LAD-I, -II, and LAD-I/variant, the latter also known as LAD-III) are caused by defects in the adhesion of leukocytes to …
Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. Leukocyte adhesion defic …
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
Marquardt T, Denecke J. Marquardt T, et al. Eur J Pediatr. 2003 Jun;162(6):359-79. doi: 10.1007/s00431-002-1136-0. Epub 2003 Mar 15. Eur J Pediatr. 2003. PMID: 12756558 Review.
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. ...This review deals with clinical, diag …
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growin …
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Tahata S, et al. Am J Med Genet A. 2022 Jul;188(7):2005-2018. doi: 10.1002/ajmg.a.62737. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338746 Review.
Leukocyte adhesion deficiency type II (LAD II, also known as SLC35C1-congenital disorder of glycosylation) is an autosomal recessive disorder characterized by growth and cognitive impairment, peripheral neutrophilia, recurrent infe …
Leukocyte adhesion deficiency type II (LAD II, also known as SLC35C1-congenital disorder of glycosylat …
Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.
Cylwik B, Naklicki M, Chrostek L, Gruszewska E. Cylwik B, et al. Acta Biochim Pol. 2013;60(2):151-61. Epub 2013 May 31. Acta Biochim Pol. 2013. PMID: 23730680 Free article. Review.
Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family, with about 50 disorders reported since its first clinical description in 1980. ...There are two main types of …
Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a ra …
[Cerebellar hypoplasias].
Safronova MM, Barbot C, Resende Pereira J. Safronova MM, et al. Acta Med Port. 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22. Acta Med Port. 2010. PMID: 21144325 Free article. Review. Portuguese.
A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO sindrome (progressive encepha …
A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hy …
Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa.
Wang Y, Schachter H, Marth JD. Wang Y, et al. Biochim Biophys Acta. 2002 Dec 19;1573(3):301-11. doi: 10.1016/s0304-4165(02)00397-5. Biochim Biophys Acta. 2002. PMID: 12417412 Review.
Mice homozygous for a deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II (GlcNAcT-II, EC 2.4.1.143) have been reported. GlcNAcT-II is essential for the synthesis of complex N-glycans. The …
Mice homozygous for a deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferas …
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.
Calvo PL, Pagliardini S, Baldi M, Pucci A, Sturiale L, Garozzo D, Vinciguerra T, Barbera C, Jaeken J. Calvo PL, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S437-40. doi: 10.1007/s10545-008-1004-9. Epub 2008 Dec 9. J Inherit Metab Dis. 2008. PMID: 19067230 Review.
Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. Further studies as to the cause of this 'apparently new' CDG, are ongoing …
Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital …
Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.
Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B. Iolascon A, et al. Haematologica. 1996 Nov-Dec;81(6):543-59. Haematologica. 1996. PMID: 9009444 Review.
Congenital dyserythropoietic anemia of type II (CDA II) is a rare disorder, usually present in childhood, with a clinical picture of chronic anemia of mild to moderate degree, splenomegaly and intermittent or persistent jaundice. ...Molecular cl …
Congenital dyserythropoietic anemia of type II (CDA II) is a rare disorder, usually present in childhood, …
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H. Schachter H. Cell Mol Life Sci. 2001 Jul;58(8):1085-104. doi: 10.1007/PL00000923. Cell Mol Life Sci. 2001. PMID: 11529501 Review.
Hereditary erythroblastic multinuclearity with a positive acidified-serum lysis test (HEMPAS; congenital dyserythropoietic anemia type II) presents as a relatively mild dyserythropoietic anemia. The genetic defect in most cases of HEMPAS is not known, but alp …
Hereditary erythroblastic multinuclearity with a positive acidified-serum lysis test (HEMPAS; congenital dyserythropoietic anemia …
Glycosylation in congenital muscular dystrophies.
Endo T, Toda T. Endo T, et al. Biol Pharm Bull. 2003 Dec;26(12):1641-7. doi: 10.1248/bpb.26.1641. Biol Pharm Bull. 2003. PMID: 14646163 Free article. Review.
We subsequently found that loss of function of the POMGnT1 gene is responsible for muscle-eye-brain disease (MEB). MEB is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities and brain malformation (type II …
We subsequently found that loss of function of the POMGnT1 gene is responsible for muscle-eye-brain disease (MEB). MEB is an autosomal reces …
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