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Year Number of Results
1999 1
2000 2
2001 1
2003 2
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2013 1
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2022 1
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Page 1
Leukocyte adhesion deficiency type II.
Becker DJ, Lowe JB. Becker DJ, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):193-204. doi: 10.1016/s0925-4439(99)00071-x. Biochim Biophys Acta. 1999. PMID: 10571012 Free article. Review.
Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and growth retardation. ...
Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections,
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.
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 infections, and th
Leukocyte adhesion deficiency type II (LAD II, also known as SLC35C1-congenital disorder of glycosylation
Biological functions of fucose in mammals.
Schneider M, Al-Shareffi E, Haltiwanger RS. Schneider M, et al. Glycobiology. 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. Glycobiology. 2017. PMID: 28430973 Free PMC article. Review.
Congenital mutations of a Golgi apparatus localized GDP-fucose transporter causes leukocyte adhesion deficiency type II, which results in severe developmental and immune deficiencies, highlighting the important role fucose plays in these process …
Congenital mutations of a Golgi apparatus localized GDP-fucose transporter causes leukocyte adhesion deficiency type
Fucose: biosynthesis and biological function in mammals.
Becker DJ, Lowe JB. Becker DJ, et al. Glycobiology. 2003 Jul;13(7):41R-53R. doi: 10.1093/glycob/cwg054. Epub 2003 Mar 19. Glycobiology. 2003. PMID: 12651883 Review.
Fucose deficiency is accompanied by a complex set of phenotypes both in humans with leukocyte adhesion deficiency type II (LAD II; also known as congenital disorder of glycosylation type IIc) and in a recently generated strain of mice with a con …
Fucose deficiency is accompanied by a complex set of phenotypes both in humans with leukocyte adhesion deficiency ty
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.
The genetic defect in most cases of HEMPAS is not known, but alpha-3/6-mannosidase II is involved in at least some patients. Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections, persistent leuk …
The genetic defect in most cases of HEMPAS is not known, but alpha-3/6-mannosidase II is involved in at least some patients. Leukocyte
Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35).
Ishida N, Kawakita M. Ishida N, et al. Pflugers Arch. 2004 Feb;447(5):768-75. doi: 10.1007/s00424-003-1093-0. Epub 2003 May 21. Pflugers Arch. 2004. PMID: 12759756 Review.
Pathological analyses and developmental studies of small, multicellular organisms deficient in nucleotide sugar transporters have shown these transporters to be involved in tumour metastasis, cellular immunity, organogenesis and morphogenesis. Leukocyte adhesion
Pathological analyses and developmental studies of small, multicellular organisms deficient in nucleotide sugar transporters have shown thes …
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring.
Durand G, Seta N. Durand G, et al. Clin Chem. 2000 Jun;46(6 Pt 1):795-805. Clin Chem. 2000. PMID: 10839767 Review.
Clinical and biochemical aspects of the diagnosis are described for inherited diseases such as I-cell disease, congenital disorders of glycosylation, leukocyte adhesion deficiency type II, hereditary erythroblastic multinuclearity with a positiv …
Clinical and biochemical aspects of the diagnosis are described for inherited diseases such as I-cell disease, congenital disorders of glyco …
11 results