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Published in Molecular genetics and metabolism (01.08.2021)
Published in Molecular genetics and metabolism (01.08.2021)
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Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
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Published in Molecular genetics and metabolism (01.01.2022)
Published in Molecular genetics and metabolism (01.01.2022)
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Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
Coughlin, Curtis R., van Karnebeek, Clara D.M., Al-Hertani, Walla, Shuen, Andrew Y., Jaggumantri, Sravan, Jack, Rhona M., Gaughan, Sommer, Burns, Casey, Mirsky, David M., Gallagher, Renata C., Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease
Kenney-Jung, Daniel, Korlimarla, Aditi, Spiridigliozzi, Gail A., Wiggins, Walter, Malinzak, Michael, Nichting, Gretchen, Jung, Seung-Hye, Sun, Angela, Wang, Raymond Y., Al Shamsi, Aisha, Phornphutkul, Chanika, Owens, James, Provenzale, James M., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial
Toscano, Antonio, Pollissard, Laurence, Msihid, Jérôme, van der Beek, Nadine, Kishnani, Priya S., Dimachkie, Mazen M., Berger, Kenneth I., DasMahapatra, Pronabesh, Thibault, Nathan, Hamed, Alaa, Zhou, Tianyue, Haack, Kristina An, Schoser, Benedikt
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Development of a neurologic severity scale for Aicardi Goutières Syndrome
Adang, Laura A., Gavazzi, Francesco, Jawad, Abbas F., Cusack, Stacy V., Kopin, Kimberly, Peer, Kyle, Besnier, Constance, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Shults, Justine, Vanderver, Adeline
Published in Molecular genetics and metabolism (01.06.2020)
Published in Molecular genetics and metabolism (01.06.2020)
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The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
Gonzalez Melo, Mary, Remacle, Noémie, Cudré-Cung, Hong-Phuc, Roux, Clothilde, Poms, Martin, Cudalbu, Cristina, Barroso, Madalena, Gersting, Søren Waldemar, Feichtinger, René Günther, Mayr, Johannes Adalbert, Costanzo, Michele, Caterino, Marianna, Ruoppolo, Margherita, Rüfenacht, Véronique, Häberle, Johannes, Braissant, Olivier, Ballhausen, Diana
Published in Molecular genetics and metabolism (01.06.2021)
Published in Molecular genetics and metabolism (01.06.2021)
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The mitochondrial heme metabolon: Insights into the complex(ity) of heme synthesis and distribution
Piel, Robert B., Dailey, Harry A., Medlock, Amy E.
Published in Molecular genetics and metabolism (01.11.2019)
Published in Molecular genetics and metabolism (01.11.2019)
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Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study
Weidemann, Frank, Beer, Meinrad, Kralewski, Martina, Siwy, Justyna, Kampmann, Christoph
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing
Domm, Jakob M., Wootton, Sarah K., Medin, Jeffrey A., West, Michael L.
Published in Molecular genetics and metabolism (01.09.2021)
Published in Molecular genetics and metabolism (01.09.2021)
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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
van der Veen, S.J., Körver, S., Hirsch, A., Hollak, C.E.M., Wijburg, F.A., Brands, M.M., Tøndel, C., van Kuilenburg, A.B.P., Langeveld, M.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome
Martinelli, Diego, Catteruccia, Michela, Piemonte, Fiorella, Pastore, Anna, Tozzi, Giulia, Dionisi-Vici, Carlo, Pontrelli, Giuseppe, Corsetti, Tiziana, Livadiotti, Susanna, Kheifets, Viktoria, Hinman, Andrew, Shrader, William D., Thoolen, Martin, Klein, Matthew B., Bertini, Enrico, Miller, Guy
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data
Charrière, Sybil, Maillot, Francois, Bouée, Stéphane, Douillard, Claire, Jacob, Christian, Schneider, Kim Maren, Theil, Julia, Arnoux, Jean-Baptiste
Published in Molecular genetics and metabolism (01.07.2023)
Published in Molecular genetics and metabolism (01.07.2023)
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Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J., Summers, Kim M.
Published in Molecular genetics and metabolism (01.08.2024)
Published in Molecular genetics and metabolism (01.08.2024)
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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
Cassiman, David, Packman, Seymour, Bembi, Bruno, Turkia, Hadhami Ben, Al-Sayed, Moeenaldeen, Schiff, Manuel, Imrie, Jackie, Mabe, Paulina, Takahashi, Tsutomu, Mengel, Karl Eugen, Giugliani, Roberto, Cox, Gerald F.
Published in Molecular genetics and metabolism (01.07.2016)
Published in Molecular genetics and metabolism (01.07.2016)
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Treatment of brain disease in the mucopolysaccharidoses
Scarpa, Maurizio, Orchard, Paul J., Schulz, Angela, Dickson, Patricia I., Haskins, Mark E., Escolar, Maria L., Giugliani, Roberto
Published in Molecular genetics and metabolism (01.12.2017)
Published in Molecular genetics and metabolism (01.12.2017)
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The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource
van Karnebeek, Clara D.M., Shevell, Michael, Zschocke, Johannes, Moeschler, John B., Stockler, Sylvia
Published in Molecular genetics and metabolism (01.04.2014)
Published in Molecular genetics and metabolism (01.04.2014)
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Gene therapy for Mucopolysaccharidoses
Sawamoto, Kazuki, Chen, Hui-Hsuan, Alméciga-Díaz, Carlos J., Mason, Robert W., Tomatsu, Shunji
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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