Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes

por Mulik, Crystal, Mercimek-Andrews, Saadet
Publicado 2023

Inherited Metabolic Disorders Presenting with Ataxia

por Silver, Grace, Mercimek-Andrews, Saadet
Publicado 2020

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

por Al-Qattan, Sarah, Malcolmson, Caroline, Mercimek-Andrews, Saadet
Publicado 2021

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

por Bahl, Shalini, Cordeiro, Dawn, MacNeil, Lauren, Schulze, Andreas, Mercimek-Andrews, Saadet
Publicado 2020

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

por Silver, Grace, Bahl, Shalini, Cordeiro, Dawn, Thakral, Abhinav, Athey, Taryn, Mercimek-Andrews, Saadet
Publicado 2021

Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

por Al Balushi, Aaisha, Matviychuk, Diana, Jobling, Rebekah, Salomons, Gajja S., Blaser, Susan, Mercimek‐Andrews, Saadet
Publicado 2019

Genetic landscape of pediatric movement disorders and management implications

por Cordeiro, Dawn, Bullivant, Garrett, Siriwardena, Komudi, Evans, Andrea, Kobayashi, Jeff, Cohn, Ronald D., Mercimek-Andrews, Saadet
Publicado 2018

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

por Ambrose, Anastasia, Sheehan, Melissa, Bahl, Shalini, Athey, Taryn, Ghai-Jain, Shailly, Chan, Alicia, Mercimek-Andrews, Saadet
Publicado 2022

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

por Jilani, Abdulhakim, Matviychuk, Diana, Blaser, Susan, Dyack, Sarah, Mathieu, Jean, Prasad, Asuri N., Prasad, Chitra, Kyriakopoulou, Lianna, Mercimek‐Andrews, Saadet
Publicado 2019

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

por Minenkova, Anastasia, Jansen, Erwin E. W., Cameron, Jessie, Barto, Rob, Hurd, Thomas, MacNeil, Lauren, Salomons, Gajja S., Mercimek-Andrews, Saadet
Publicado 2021

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

por Radenkovic, Silvia, Johnsen, Christin, Schulze, Andreas, Lail, Gurnoor, Guilder, Laura, Schwartz, Kaitlin, Schultz, Matthew, Mercimek-Andrews, Saadet, Boyer, Suzanne, Morava, Eva
Publicado 2023

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

por Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet
Publicado 2021

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

por Zabinyakov, Nikita, Bullivant, Garrett, Cao, Feng, Fernandez Ojeda, Matilde, Jia, Zheng Ping, Wen, Xiao-Yan, Dowling, James J., Salomons, Gajja S., Mercimek-Andrews, Saadet
Publicado 2017

Outcomes of patients with cobalamin C deficiency: A single center experience

por Bourque, Danielle K., Mellin‐Sanchez, Lizbeth E., Bullivant, Garrett, Cruz, Vivian, Feigenbaum, Anette, Hewson, Stacy, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Mercimek‐Andrews, Saadet
Publicado 2020

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

por Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek‐Andrews, Saadet, Witters, Peter, Morava, Eva
Publicado 2019

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

por Klopstock, Thomas, Mercimek-Andrews, Saadet, Jurecka, Agnieszka, Wood, Patricia, Cwyl, Maciej, Klucken, Angelika, López, Antonio, Scalise, Roberta, Valle, Andrea, Mollet, Fatemeh, Perez-Duenas, Belen, Skowronska, Marta, Chroscinska-Krawczyk, Magdalena, Escolar, Maria Luisa, Wade, Anna, Rintell, David
Publicado 2023

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

por Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Publicado 2020

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

por Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas
Publicado 2020

Functional divergence of the two Elongator subcomplexes during neurodevelopment

por Gaik, Monika, Kojic, Marija, Stegeman, Megan R, Öncü‐Öner, Tülay, Kościelniak, Anna, Jones, Alun, Mohamed, Ahmed, Chau, Pak Yan Stefanie, Sharmin, Sazia, Chramiec‐Głąbik, Andrzej, Indyka, Paulina, Rawski, Michał, Biela, Anna, Dobosz, Dominika, Millar, Amanda, Chau, Vann, Ünalp, Aycan, Piper, Michael, Bellingham, Mark C, Eichler, Evan E, Nickerson, Deborah A, Güleryüz, Handan, Abbassi, Nour El Hana, Jazgar, Konrad, Davis, Melissa J, Mercimek‐Andrews, Saadet, Cingöz, Sultan, Wainwright, Brandon J, Glatt, Sebastian
Publicado 2022

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

por Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Publicado 2021