Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

Por Matalon, R, Dorfman, A
Publicado em 1966

The mucopolysaccharidoses (a review).

Por Dorfman, A, Matalon, R
Publicado em 1976

The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture.

Por Matalon, R, Dorfman, A
Publicado em 1968

A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.

Por Newell, F W, Matalon, R, Meyer, S
Publicado em 1975

Glycopeptide storage in skin fibroblasts cultured from a patient with alpha-mannosidase deficiency.

Por Tsay, G C, Dawson, G, Matalon, R
Publicado em 1975

Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly

Por Meyertholen, K., Ravnan, J.B., Matalon, R.
Publicado no Mol Syndromol (2012)

Lipid abnormalities in a variant of the Hurler syndrome.

Por Matalon, R, Cifonelli, J A, Zellweger, H, Dormanfman, A
Publicado em 1968

Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Por Kim, H J, Beratis, N G, Brill, P, Raab, E, Hirschhorn, K, Matalon, R
Publicado em 1975

Canavan disease: mutations among Jewish and non-jewish patients.

Por Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R.
Publicado em 1994

Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids

Por Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P
Publicado no Eur J Clin Nutr (2017)

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Por Kaul, R., Gao, G. P., Matalon, R., Aloya, M., Su, Q., Jin, M., Johnson, A. B., Schutgens, R. B., Clarke, J. T.
Publicado em 1996

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Por Guldberg, P., Levy, H. L., Hanley, W. B., Koch, R., Matalon, R., Rouse, B. M., Trefz, F., de la Cruz, F., Henriksen, K. F., Güttler, F.
Publicado em 1996

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Por 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.
Publicado no N Engl J Med (2014)