Search Results - "Pomponio, R.J"

P4.52 Transcriptional response to GAA deficiency in mice and humans by Palmer, R.E, Palermo, A, So, K, Zhang, M, Richards, B, Shah, S, Finn, P, Oba-Shinjo, S, Pescatori, M, Marie, S.K.N, McVie-Wylie, A, Mattaliano, R, Pomponio, R.J, Madden, S, Klinger, K

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Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients by Palermo, A.T., Palmer, R.E., So, K.S., Oba-Shinjo, S.M., Zhang, M., Richards, B., Madhiwalla, S.T., Finn, P.F., Hasegawa, A., Ciociola, K.M., Pescatori, M., McVie-Wylie, A.J., Mattaliano, R.J., Madden, S.L., Marie, S.K.N., Klinger, K.W., Pomponio, R.J.

“…Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to…”
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Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations by Pomponio, R.J., Cabrera-Salazar, M.A., Echeverri, O.Y., Miller, G., Barrera, L.A.

“…Gaucher disease is the most common of the lysosomal storage disorders, affecting all ethnic groups. The pathology of this recessively inherited disease arises…”
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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency by Pomponio, R.J, Reynolds, T.R, Cole, H, Buck, G.A, Wolf, B

“…Biotinidase deficiency is an autosomal recessive inherited disorder that is characterized by neurological and cutaneous symptoms. Biotinidase-deficient…”
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