Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.

ανά Panneerselvam, K, Freeze, H H
Έκδοση 1996

Unaltered catabolism of desialylated low-density lipoprotein in the pig and in cultured rat hepatocytes.

ανά Attie, A D, Weinstein, D B, Freeze, H H, Pittman, R C, Steinberg, D
Έκδοση 1979

CONGENITAL NEPHROTIC SYNDROME IN AN INFANT WITH ALG1-CONGENITAL DISORDER OF GLYCOSYLATION

ανά Harshman, L.A., Ng, B.G., Freeze, H.H., Trapane, P., Dolzeal, A., Brophy, P.D., Brumbaugh, J.E.
Τόπος έκδοσης Pediatr Int (2016)

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

ανά Bahena-Bahena, D., López-Valdez, J., Raymond, K., Salinas-Marín, R., Ortega-García, A., Ng, B.G., Freeze, H.H., Ruíz-García, M., Martínez-Duncker, I.
Τόπος έκδοσης Mol Genet Metab Rep (2014)

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

ανά Niehues, R, Hasilik, M, Alton, G, Körner, C, Schiebe-Sukumar, M, Koch, H G, Zimmer, K P, Wu, R, Harms, E, Reiter, K, von Figura, K, Freeze, H H, Harms, H K, Marquardt, T
Έκδοση 1998

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

ανά Tegtmeyer, L.C., Rust, S., van Scherpenzeel, M., Ng, B.G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y.S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J., Rymen, D., Stojkovic, T., Laforêt, P., Petit, F., Aumaître, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C.A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., van Spronsen, F., de Meirleir, L., Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R.A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., van Schaftingen, E., Freeze, H.H., Morava, E., Lefeber, D.J., Marquardt, T.
Τόπος έκδοσης N Engl J Med (2014)