Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Woodcock, 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, PhD

United States: Elsevier Inc

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A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality

Peters, Heidi ; Nefedov, Mikhail ; Sarsero, Joseph ; Pitt, James ; Fowler, Kerry J. ; Gazeas, Sophie ; Kahler, Stephen G. ; Ioannou, Panayiotis A.

United States: Elsevier Inc

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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

Okur, 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, Eric

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Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies

Giugliani, 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.

Elsevier Inc

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Wilson, 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 J

CELL PRESS

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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, Fatih

Elsevier Inc

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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.

Elsevier Inc

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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, Fatih

Elsevier Inc

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Nutritional status survey of healthy noninstitutionalized elderly: Energy and nutrient intakes from three-day diet records and nutrient supplements

McGandy, Robert B. ; Russell, Robert M. ; Hartz, Stuart C. ; Jacob, Robert A. ; Tannenbaum, Saul ; Peters, Heidi ; Sahyoun, Nadine ; Otradovec, Constance L.

New York, NY: Elsevier Inc

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