Characterization of the human lysosomal alpha-glucosidase gene.

Por Hoefsloot, L H, Hoogeveen-Westerveld, M, Reuser, A J, Oostra, B A
Publicado em 1990

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

Por Hoefsloot, L.H., Hoogeveen-Westerveld, M., Oostra, B.A., Reuser, A.J.J.
Publicado em 1991

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

Por Dong, F, van Buitenen, C, Pouwels, K, Hoefsloot, L H, Löwenberg, B, Touw, I P
Publicado em 1993

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

Por Van der Ploeg, A T, Hoefsloot, L H, Hoogeveen-Westerveld, M, Petersen, E M, Reuser, A J
Publicado em 1989

HindIII/EcoRI polymorphism in the GAA gene

Por Hoefsloot, L.H., Hoogeveen-Westerveld, M., Sakuraba, H., Suzuki, Y., Oostra, B.A., Reuser, A.J.J.
Publicado em 1990

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

Por Hoefsloot, L H, Hoogeveen-Westerveld, M, Kroos, M A, van Beeumen, J, Reuser, A J, Oostra, B A
Publicado em 1988

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

Por Hoefsloot, L H, van der Ploeg, A T, Kroos, M A, Hoogeveen-Westerveld, M, Oostra, B A, Reuser, A J
Publicado em 1990

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

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

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

Por 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
Publicado em 1990

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

Por 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.
Publicado no 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

Por 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
Publicado em 2008

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

Por 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.
Publicado em 2013

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

Por 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
Publicado em 2006