In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients von Negretto, G.W., Deon, M., Burin, M., Biancini, G.B., Ribas, G., Garcia, S.C., Goethel, G., Fracasso, R., Giugliani, L., Giugliani, R., Vargas, C.R.

Volltext

Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients von Sitta, A., Vanzin, C. S., Biancini, G. B., Manfredini, V., de Oliveira, A. B., Wayhs, C. A. Y., Ribas, G. O. S., Giugliani, L., Schwartz, I. V. D., Bohrer, D., Garcia, S. C., Wajner, M., Vargas, C. R.

Volltext

ELADOCAGENE EXUPARVOVEC GENE THERAPY IMPROVES MOTOR DEVELOPMENT IN PATIENTS WITH AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY von Pachelli, P.E., Giugliani, L., Federhen, A., Wang, A., Russel, A., Roubertie, A., Chien, Y-H., Lee, N-C., Tai, C-H., Wuh-Liang, P.

Volltext

13 - ELADOCAGENE EXUPARVOVEC GENE THERAPY IMPROVES MOTOR DEVELOPMENT IN PATIENTS WITH AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY von Pachelli, P.E., Giugliani, L., Federhen, A., Wang, A., Russel, A., Roubertie, A., Chien, Y-H., Lee, N-C., Tai, C-H., Wuh-Liang, P.

Volltext

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort... von Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

Volltext

SAFETY AND IMPROVED EFFICACY OUTCOMES IN CHILDREN WITH AADC DEFICIENCY TREATED WITH ELADOCAGENE EXUPARVOVEC GENE THERAPY: RESULTS FROM THREE CLINICAL TRIALS von Hwu, PWL, Pachelli, PE, Chien, YH, Lee, NC, Tseng, SH, Tai, CH, Conway, AM, Federhen, A, Giugliani, L, Felix, T, Pykett, M

Volltext

Effect of breastfeeding promotion interventions on child growth: a systematic review and meta-analysis von Giugliani, Elsa R.J., Horta, Bernardo L., Loret de Mola, Christian, Lisboa, Bernardo O., Victora, Cesar G.

Volltext

Validation of a tool to evaluate women's satisfaction with breastfeeding for the Brazilian population von Senna, Andrea F. Kroll de, Giugliani, Camila, Lago, Juliana C.A., Bizon, Agnes M.B.L., Martins, Ana C.M., Oliveira, Ceres A.V., Giugliani, Elsa R.J.

Volltext

Breastfeeding in the 21st century: epidemiology, mechanisms, and lifelong effect von Victora, Cesar G, Prof, Bahl, Rajiv, MD, Barros, Aluísio J D, Prof, França, Giovanny V A, PhD, Horton, Susan, Prof, Krasevec, Julia, MSc, Murch, Simon, Prof, Sankar, Mari Jeeva, DM, Walker, Neff, PhD, Rollins, Nigel C

Volltext

Development and validation of an instrument for monitoring child development indicators von Venancio, Sonia I., Bortoli, Maritsa C., Frias, Paulo G., Giugliani, Elsa R.J., Alves, Cláudia R.L., Santos, Miriam O.

Volltext

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data von Mehta, A, Dr, Beck, M, Prof, Elliott, P, FRCP, Giugliani, R, Prof, Linhart, A, Prof, Sunder-Plassmann, G, Prof, Schiffmann, R, Prof, Barbey, F, MD, Ries, M, MD, Clarke, JTR, Prof

Volltext

Skin‐to‐skin contact after birth: Developing a research and practice guideline von Brimdyr, Kajsa, Stevens, Jeni, Svensson, Kristin, Blair, Anna, Turner‐Maffei, Cindy, Grady, Julie, Bastarache, Louise, Alfy, Abla, Crenshaw, Jeannette T., Giugliani, Elsa Regina Justo, Ewald, Uwe, Haider, Rukhsana, Jonas, Wibke, Kagawa, Mike, Lilliesköld, Siri, Maastrup, Ragnhild, Sinclair, Ravae, Swift, Emma, Takahashi, Yuki, Cadwell, Karin

Volltext

Psychometric properties of the Child Development Assessment Questionnaire (QAD-PIPAS) for use in population studies involving Brazilian children aged 0–59 months von Venancio, Sonia I., Buccini, Gabriela S., Alves, Cláudia R.L., Bortoli, Maritsa C., Bernal, Regina T.I., Eickmann, Sophie H., Frias, Paulo G., Giugliani, Elsa R.J., Santos, Miriam O.

Volltext

Treatment of brain disease in the mucopolysaccharidoses von Scarpa, Maurizio, Orchard, Paul J., Schulz, Angela, Dickson, Patricia I., Haskins, Mark E., Escolar, Maria L., Giugliani, Roberto

Volltext

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry von Beck, Michael, Ramaswami, Uma, Hernberg-Ståhl, Elizabeth, Hughes, Derralynn A, Kampmann, Christoph, Mehta, Atul B, Nicholls, Kathleen, Niu, Dau-Ming, Pintos-Morell, Guillem, Reisin, Ricardo, West, Michael L, Schenk, Jörn, Anagnostopoulou, Christina, Botha, Jaco, Giugliani, Roberto

Volltext

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND tr... von Wasserstein, Melissa P, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C, Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L, Yarramaneni, Abhimanyu, Armstrong, Nicole M, Kim, Yong, Kumar, Monica

Volltext

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... von Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B, Chabrol, Brigitte, Grant, Christina L, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J Lawrence

Volltext

Factors Associated with Low Incidence of Exclusive Breastfeeding for the First 6 Months von Santo, Lilian Cordova do Espírito, De Oliveira, Luciana Dias, Giugliani, Elsa Regina Justo

Volltext

Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 W... von Harmatz, Paul, Ketteridge, David, Giugliani, Roberto, Guffon, Natalie, Teles, Elisa Leao, Miranda, M. Clara Sa, Yu, Zi-Fan, Swiedler, Stuart J, Hopwood, John J, MPS VI Study Group

Volltext

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) von Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

Volltext