Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.

od Schuchman, E H, Desnick, R J
Wydane 1988

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

od Levran, O, Desnick, R J, Schuchman, E H
Wydane 1991

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

od Levran, O, Desnick, R J, Schuchman, E H
Wydane 1991

A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14

od Jin, W.-D., Desnick, R.J., Schuchman, E.H.
Wydane 1991

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)

od Schuchman, E.H., Levran, O., Suchi, M., Desnick, R.J.
Wydane 1991

Regional assignment of the structural gene for human alpha-L-iduronidase.

od Schuchman, E H, Astrin, K H, Aula, P, Desnick, R J
Wydane 1984

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic...

od Jin, W D, Jackson, C E, Desnick, R J, Schuchman, E H
Wydane 1992

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.

od Suchi, M, Dinur, T, Desnick, R J, Gatt, S, Pereira, L, Gilboa, E, Schuchman, E H
Wydane 1992

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.

od Fillat, C, Simonaro, C M, Yeyati, P L, Abkowitz, J L, Haskins, M E, Schuchman, E H
Wydane 1996

Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog.

od Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., Patterson, D. F.
Wydane 1991

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

od Quintern, L E, Schuchman, E H, Levran, O, Suchi, M, Ferlinz, K, Reinke, H, Sandhoff, K, Desnick, R J
Wydane 1989

Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer.

od Wolfe, J H, Schuchman, E H, Stramm, L E, Concaugh, E A, Haskins, M E, Aguirre, G D, Patterson, D F, Desnick, R J, Gilboa, E
Wydane 1990