Characterization of the human lysosomal alpha-glucosidase gene.

Autor Hoefsloot, L H, Hoogeveen-Westerveld, M, Reuser, A J, Oostra, B A
Vydáno 1990

An XbaI restriction site polymorphism in the acid α-glucosidase gene (GAA)

Autor Hoefsloot, L.H., Hoogeveen-Westerveld, M., Oostra, B.A., Reuser, A.J.J.
Vydáno 1991

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation.

Autor Dong, F, van Buitenen, C, Pouwels, K, Hoefsloot, L H, Löwenberg, B, Touw, I P
Vydáno 1993

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Autor Van der Ploeg, A T, Hoefsloot, L H, Hoogeveen-Westerveld, M, Petersen, E M, Reuser, A J
Vydáno 1989

HindIII/EcoRI polymorphism in the GAA gene

Autor Hoefsloot, L.H., Hoogeveen-Westerveld, M., Sakuraba, H., Suzuki, Y., Oostra, B.A., Reuser, A.J.J.
Vydáno 1990

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

Autor Hoefsloot, L H, Hoogeveen-Westerveld, M, Kroos, M A, van Beeumen, J, Reuser, A J, Oostra, B A
Vydáno 1988

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

Autor Hoefsloot, L H, van der Ploeg, A T, Kroos, M A, Hoogeveen-Westerveld, M, Oostra, B A, Reuser, A J
Vydáno 1990

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.

Autor Dong, F, Hoefsloot, L H, Schelen, A M, Broeders, C A, Meijer, Y, Veerman, A J, Touw, I P, Löwenberg, B
Vydáno 1994

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

Autor Hoefsloot, L H, Willemsen, R, Kroos, M A, Hoogeveen-Westerveld, M, Hermans, M M, Van der Ploeg, A T, Oostra, B A, Reuser, A J
Vydáno 1990

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Autor Meijer, O. L. M., Welling, L., Valstar, M. J., Hoefsloot, L. H., Brüggenwirth, H. T., van der Ploeg, A. T., Ruijter, G. J. G., Wagemans, T., Wijburg, F. A., van Vlies, N.
Vydáno v J Inherit Metab Dis (2016)

Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Autor Gennery, A R, Slatter, M A, Rice, J, Hoefsloot, L H, Barge, D, McLean-Tooke, A, Montgomery, T, Goodship, J A, Burt, A D, Flood, T J, Abinun, M, Cant, A J, Johnson, D
Vydáno 2008

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Autor Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.
Vydáno 2013

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Autor Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, van Kessel, A Geurts, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Vydáno 2006