Search Results - "Church, H.J."

Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C by Cooper, J.A., Church, H.J., Wu, H.Y.

“…In recent years the oxysterol species cholestane-3β, 5α, 6β-triol (C-triol) has found application as a diagnostic biomarker for Niemann-Pick disease type C…”
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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations by Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.

“…Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme…”
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Sleep disordered breathing in treated mucopolysaccharidosis I patients correlates with worsening metabolic biomarkers and inhibitory antibodies by Pal, A.R., Langereis, E.J., Saif, M.A., Mercer, J., Church, H.J., Tylee, K.L., Wynn, R.F., Wijburg, F.A., Jones, S.A., Bruce, I.A., Bigger, B.

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Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170] by Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.

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