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

Wilson, Matthew P. ; Garanto, Alejandro ; Pinto e Vairo, Filippo ; Ng, Bobby G. ; Ranatunga, Wasantha K. ; Ventouratou, Marina ; Baerenfaenger, Melissa ; Huijben, Karin ; Thiel, Christian ; Ashikov, Angel ; Keldermans, Liesbeth ; Souche, Erika ; Vuillaumier-Barrot, Sandrine ; Dupré, 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 ; Rodríguez-Palmero, Agustí ; Ballhausen, Diana ; de Lonlay, Pascale ; Barone, Rita ; Janssen, Mirian C.H. ; Jaeken, Jaak ; Freeze, Hudson H. ; Matthijs, Gert ; Morava, Eva ; Lefeber, Dirk J.

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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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Van Bergen, Nicole J ; Hock, Daniella H ; Spencer, Lucy ; Massey, Sean ; Stait, Tegan ; Stark, Zornitza ; Lunke, Sebastian ; Roesley, Ain ; Peters, Heidi ; Lee, Joy Yaplito ; Le Fevre, Anna ; Heath, Oliver ; Mignone, Cristina ; Yang, Joseph Yuan-Mou ; Ryan, Monique M ; D'Arcy, Colleen ; Nash, Margot ; Smith, Sile ; Caruana, Nikeisha J ; Thorburn, David R ; Stroud, David A ; White, Susan M ; Christodoulou, John ; Brown, Natasha J

Switzerland: MDPI AG

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Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case Series

Crowe, Louise M. ; Brown, Amy ; Peters, Heidi

Rüdigerstraße 14, 70469 Stuttgart, Germany: Georg Thieme Verlag KG

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Defense Acquisitions: DoD's Cybersecurity Maturity Model Certification Framework

Peters, Heidi M

Defense Acquisition University Press

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Schwartz, Moshe ; Peters, Heidi M

Fort Belvoir: Superintendent of Documents

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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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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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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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