Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data

by Carlos R. Ferreira
Published 2017-03-01

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

by Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam
Published 2020-09-01

2022 Overview of Metabolic Epilepsies

by Birute Tumiene, Carlos R. Ferreira, Clara D. M. van Karnebeek
Published 2022-03-01

Pharmacokinetics of oral l-serine supplementation in a single patient

by Danny E. Miller, Carlos R. Ferreira, Anna I. Scott, Irene J. Chang
Published 2020-09-01

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia

by Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira
Published 2017-12-01

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

by Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Bryan Sayson, Jessica J. Y. Lee, Laura A. Tseng, Nenad Blau, Nenad Blau, Gabriella A. Horvath, Carlos R. Ferreira, Carlos R. Ferreira
Published 2018-12-01

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

by Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos R. Ferreira, Willam Gahl, Danica Novacic
Published 2019-09-01

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report

by Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
Published 2020-09-01

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

by Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan
Published 2020-09-01

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

by Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Published 2022-12-01

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

by Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek
Published 2021-04-01

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

by Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Published 2020-12-01

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

by Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
Published 2022-07-01

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

by Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Published 2019-02-01

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

by Hilde A. G. Warmerdam, Elise A. Termeulen-Ferreira, Laura A. Tseng, Jessica Y. Lee, Agnies M. van Eeghen, Agnies M. van Eeghen, Carlos R. Ferreira, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2020-02-01

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

by Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli
Published 2021-07-01

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Published 2017-07-01