Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

by Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall
Published 2021-09-01

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome...

by Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou
Published 2021-09-01

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function

by Lisa D. Hobson-Webb, Paul J. Zwelling, Shruti S. Raja, Ashley N. Pifer, Priya S. Kishnani
Published 2021-09-01

Protective effects of alpha-lipoic acid on hair cell damage in diabetic zebrafish model

by Eunmi Kim, Dong-Won Lee, Hae-Chul Park, Dong Hwee Kim
Published 2021-09-01

Case report: ‘AARS2 leukodystrophy’

by Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, Sabine Grønborg
Published 2021-09-01

A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal...

by Ryo Saito, Takashi Miyajima, Takeo Iwamoto, Chen Wu, Ken Suzuki, Mohammad Arif Hossain, Miyo Munakata, Takumi Era, Yoshikatsu Eto
Published 2021-09-01

“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”

by Alessandro Cattoni, Sofia Chiaraluce, Serena Gasperini, Silvia Molinari, Andrea Biondi, Attilio Rovelli, Rossella Parini
Published 2021-09-01

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

by Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
Published 2021-09-01

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

by Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein
Published 2021-09-01

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

by C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker
Published 2021-09-01

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

by Hebah S. Al Absi, Stephanie Sacharow, Naser Al Zein, Aisha Al Shamsi, Amal Al Teneiji
Published 2021-03-01

Emerging considerations on mitochondrial and cytosolic metabolic features in SDH-deficient cancer cells

by Joseph Vamecq, Pascal Pigny
Published 2021-03-01

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

by Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González
Published 2021-03-01

Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players

by Bharesh K. Chauhan, Anagha Medsinge, Hannah L. Scanga, Charleen T. Chu, Ken K. Nischal
Published 2021-03-01

SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening

by N. Vitturi, L. Lenzini, F. Francini-Pesenti, G. Gugelmo, A. Avogaro
Published 2021-03-01

Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation

by M. Kueht, P. Jindra, H.L. Stevenson, T.N. Galvan, B. Murthy, J. Goss, J. Anton, R. Abbas, M.F. Cusick
Published 2021-03-01

Leigh syndrome associated with TRMU gene mutations

by Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro
Published 2021-03-01

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

by Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons
Published 2021-03-01

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

by Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi, Jean-Baptiste Arnoux, Pascale de Lonlay pascale
Published 2021-03-01

SLC35A2-CDG: Novel variant and review

by Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Published 2021-03-01