Search Results - "Puga, Ana C."

Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema by Picker, Jonathan D., Puga, Ana C., Levy, Harvey L., Marsden, Deborah, Shih, Vivian E., DeGirolami, Umberto, Ligon, Keith L., Cederbaum, Stephen D., Kern, Rita M., Cox, Gerald F.

“…We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and…”
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Prospective study of 11 Brazilian patients with mucopolysaccharidosis II by Pinto, Louise L C, Schwartz, Ida V D, Puga, Ana C S, Vieira, Taiane A, Munoz, Maria Verônica R, Giugliani, Roberto

“…To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. Eleven Brazilian patients with mucopolysaccharidosis II…”
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Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years by Puga, Ana C., Hamed, Alaa, Kissell, Julie, Minini, Pascal, Pabla, Anureet K., Kahn, Susan, Eichler, Florian, Stephen, Christopher D., Tifft, Cynthia J., Toro, Camilo, Johnston, Jean, Lau, Heather A., Haxton, Elizabeth, Gray-Edwards, Heather, Fischer, Tanya

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Eliglustat safety profile based on a pooled analysis of data from four trials in Gaucher disease type I by Ross, Leorah, Peterschmitt, Judith, Puga, Ana C., Cox, Gerald F., Marulkar, Sachin, Angell, Jennifer, Gaemers, Bas, Mankoski, Raymond

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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II by Pinto, Louise L. C., Schwartz, Ida V. D., Puga, Ana C. S., Vieira, Taiane A., Munoz, Maria Verônica R., Giugliani, Roberto

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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II by Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani

“…OBJETIVO: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. MÉTODOS: Onze pacientes brasileiros com…”
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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II by Pinto, Louise L. C., Schwartz, Ida V. D., Puga, Ana C. S., Vieira, Taiane A., Munoz, Maria Verônica R., Giugliani, Roberto

“…OBJETIVO: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. MÉTODOS: Onze pacientes brasileiros com…”
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