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Material Type: Artigo
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Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeWoodcock, Ian R., MBBS, MRCPCH, MSc ; Menezes, Manoj P., MBBS, FRACP, PhD ; Coleman, Lee, MBCHB, FRANZCR, BSc ; Yaplito-Lee, Joy, MD, FRACP ; Peters, Heidi, MBBS, FRACP, PhD ; White, Susan M., MBBS, FRACP ; Stapleton, Rachel, MBBS ; Phelan, Dean G., BSc ; Chong, Belinda, PhD ; Lunke, Sebastian, PhD ; Stark, Zornitza, BM, BCh, FRACP, MA ; Pitt, James, PhD, FFSc (RCPA) ; Ryan, Monique M., MBBS, FRACP, MMed ; Robertson, Colin, MBBS, FRACP, MSc, MD ; Yiu, Eppie M., MBBS, FRACP, PhDSeminars in pediatric neurology, 2018-07, Vol.26, p.2-9 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal LethalityPeters, Heidi ; Nefedov, Mikhail ; Sarsero, Joseph ; Pitt, James ; Fowler, Kerry J. ; Gazeas, Sophie ; Kahler, Stephen G. ; Ioannou, Panayiotis A.The Journal of biological chemistry, 2003-12, Vol.278 (52), p.52909-52913 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIBOkur, Ilyas ; Ezgu, Fatih ; Giugliani, Roberto ; Muschol, Nicole ; Koehn, Anja ; Amartino, Hernan ; Harmatz, Paul ; de Castro Lopez, Maria J. ; Couce, Maria Luz ; Lin, Shuan-Pei ; Batzios, Spyros ; Cleary, Maureen ; Solano, Martha ; Peters, Heidi ; Lee, Joy ; Nestrasil, Igor ; Shaywitz, Adam J. ; Maricich, Stephen M. ; Kuca, Bernice ; Kovalchin, Joseph ; Zanelli, EricThe Journal of pediatrics, 2022-10, Vol.249, p.50-58.e2 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studiesGiugliani, Roberto ; Okur, Ilyas ; Ezgu, Fatih ; Muschol, Nicole ; Harmatz, Paul ; de Castro Lopez, Maria ; Couce, Maria Luz ; Lin, Shuan-Pei ; Batzios, Spyros ; Cleary, Maureen ; Solano, Martha ; Amartino, Hernan ; Peters, Heidi ; Lee, Joy ; Kovalchin, Joseph ; Zanelli, Eric ; Maricich, Stephen M.Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S44-S44 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsWilson, Matthew P ; Garanto, Alejandro ; Vairo, Filippo Pinto E ; Ng, Bobby G ; Ranatunga, Wasantha K ; Ventouratou, Marina ; Baerenfaenger, Melissa ; Huijben, Karin ; Thiel, Christian ; Ashikov, Angel ; Keldermans, Liesbeth ; Souche, Erika ; Vuillaumier-Barrot, Sandrine ; Dupre, Thierry ; Michelakakis, Helen ; Fiumara, Agata ; Pitt, James ; White, Susan M ; Lim, Sze Chern ; Gallacher, Lyndon ; Peters, Heidi ; Rymen, Daisy ; Witters, Peter ; Ribes, Antonia ; Morales-Romero, Blai ; Rodriguez-Palmero, Agusti ; Ballhausen, Diana ; de Lonlay, Pascale ; Barone, Rita ; Janssen, Mirian C.H ; Jaeken, Jaak ; Freeze, Hudson H ; Matthijs, Gert ; Morava, Eva ; Lefeber, Dirk JAMERICAN JOURNAL OF HUMAN GENETICS, 2021-11, Vol.108 (11), p.2130-2144 [Periódico revisado por pares]CELL PRESSTexto completo disponível |
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Material Type: Artigo
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Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)Okur, Ilyas ; Cleary, Maureen ; de Castro Lopez, Maria Jose ; Harmatz, Paul ; Lee, Joy ; Lin, Shaun-Pei ; Couce, Maria Luz ; Muschol, Nicole ; Peters, Heidi ; Villarreal, Martha Solano ; Shaywitz, Adam ; Cahan, Heather ; Grover, Anita ; Maricich, Stephen M. ; Melton, Andrew ; Smith, Lynn ; Ezgu, FatihMolecular genetics and metabolism, 2018-02, Vol.123 (2), p.S108-S109 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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ICV-administered tralesinidase alfa (BMN 250 NAGLU-IGF2) is well-tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)Cleary, Maureen ; Muschol, Nicole ; Couce, Maria Luz ; Harmatz, Paul ; Lee, Joy ; Lin, Shuan-Pei ; Okur, Ilyas ; Ezgu, Fatih ; Peters, Heidi ; Villarreal, Martha Solano ; Shaywitz, Adam J. ; Cahan, Heather ; Grover, Anita ; Melton, Andrew ; Smith, Lynn ; Maricich, Stephen M. ; de Castro Lopez, Maria J.Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S40-S40 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)Villarreal, Martha Solano ; Okur, Ilyas ; Cleary, Maureen ; de Castro Lopez, Maria Jose ; Harmatz, Paul ; Lee, Joy ; Lin, Shuan-Pei ; Couce, Maria Luz ; Muschol, Nicole ; Peters, Heidi ; Shaywitz, Adam J. ; Cahan, Heather ; Grover, Anita ; Melton, Andrew ; Smith, Lynn ; Maricich, Stephen M. ; Ezgu, FatihMolecular genetics and metabolism, 2019-02, Vol.126 (2), p.S136-S136 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Nutritional status survey of healthy noninstitutionalized elderly: Energy and nutrient intakes from three-day diet records and nutrient supplementsMcGandy, Robert B. ; Russell, Robert M. ; Hartz, Stuart C. ; Jacob, Robert A. ; Tannenbaum, Saul ; Peters, Heidi ; Sahyoun, Nadine ; Otradovec, Constance L.Nutrition research (New York, N.Y.), 1986, Vol.6 (7), p.785-798 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |