Molecular genetics and metabolism

Keyphrases

Publications

volume 143, number 1-2, 2024

Berith M Balfoort, Gioena Pampalone, Jos P N Ruiter, Simone W Denis, Marion M Brands, null null, Corrie Timmer, Margreet A E M Wagenmakers, Ronald J A Wanders, Clara D van Karnebeek, Barbara Cellini, Riekelt H Houtkooper, Sacha Ferdinandusse
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay. Molecular genetics and metabolism 143 (1-2) (2024)
Alessandro Bregalda, Claudia Carducci, Tiziana Pascucci, Patrizia Ambrogini, Stefano Sartini, Francesca Pierigè, Emanuele di Carlo, Elena Fiori, Donald Ielpo, Marica Pagliarini, Vincenzo Leuzzi, Mauro Magnani, Luigia Rossi
New findings about neuropathological outcomes in the PKU mouse throughout lifespan. Molecular genetics and metabolism 143 (1-2) (2024)
Peter W Stacpoole, Carolyn O Dirain
The pyruvate dehydrogenase complex at the epigenetic crossroads of acetylation and lactylation. Molecular genetics and metabolism 143 (1-2) (2024)
Ruben J Overduin, Annieke Venema, Charlotte M A Lubout, Marieke J Fokkert-Wilts, Foekje De Boer, Andrea B Schreuder, Alessandro Rossi, Terry G J Derks
Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study. Molecular genetics and metabolism 143 (1-2) (2024)
Anne Tomm, Alena G Thiele, Carmen Rohde, Stefanie Kirmse, Wieland Kiess, Skadi Beblo
Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA). Molecular genetics and metabolism 143 (1-2) (2024)
Juliette Bouchereau, Camille Wicker, Karine Mention, Clothilde Marbach, Jeremy Do Cao, Claire-Marine Berat, Marianne Jaroussie, Aline Cano, Magali Gorce, Alexa Garros, Alice Kuster, Célia Hoebeke, Claire Mayer, Anaïs Brassier, Laurent Gouya, Cécile Schrimpf, Jean-Baptiste Arnoux, Manuel Schiff, Cécile Acquaviva-Bourdain, Jean-François Benoist, Sandy Courapied, Pierre Broué, Mehdi Oualha, Claire Douillard, Pascale de Lonlay
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases. Molecular genetics and metabolism 143 (1-2) (2024)
Rachel A Luke, Niamh X Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm, Christopher A Wassif, Forbes D Porter
Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome. Molecular genetics and metabolism 143 (1-2) (2024)
Leena Patel, Ashwin Roy, Jonathan Barlow, Christopher O'Shea, Daniel Nieves, Amar J Azad, Caitlin Hall, Ben Davies, Phalguni Rath, Davor Pavlovic, Ashish Chikermane, Tarek Geberhiwot, Richard P Steeds, Katja Gehmlich
Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model. Molecular genetics and metabolism 143 (1-2) (2024)
Albina Nowak, Jaco Botha, Christina Anagnostopoulou, Derralynn A Hughes
Clinical outcomes in elderly patients receiving agalsidase alfa treatment in the Fabry Outcome Survey. Molecular genetics and metabolism 143 (1-2) (2024)
Takashi Higuchi, Yohta Shimada, Yukari Takahashi, Fusao Kato, Toya Ohashi, Hiroshi Kobayashi
Restoration of peripheral neuropathy in Fabry mice via intrathecal administration of an adeno-associated virus vector encoding mGLA cDNA. Molecular genetics and metabolism 143 (1-2) (2024)
Alicia Vilas, Álvaro Briso-Montiano, Cristina Segovia-Falquina, Arturo Martín-Martínez, Alejandro Soriano-Sexto, Diana Gallego, Vera Ruiz-Montés, Alejandra Gámez, Belén Pérez
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation. Molecular genetics and metabolism 143 (1-2) (2024)
Oriana Mandolfo, Helen Parker, Asma'u Usman, Yuko Ishikawa Learmonth, Rebecca J Holley, Andrew MacDonald, Tristan McKay, Brian Bigger
Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies. Molecular genetics and metabolism 143 (1-2) (2024)
Dulce Quelhas, Jaak Jaeken
Treatment of congenital disorders of glycosylation: An overview. Molecular genetics and metabolism 143 (1-2) (2024)
Cassiano Augusto Braga Silva, Fellype de Carvalho Barreto, Osvaldo Merege Vieira Neto, Leandro Junior Lucca, Fernando A Vieira, Ana Paula Santana Gueiros, Marta V Boger, Artur Quintiliano Silva, Felipe Leite Guedes, Karla Cristina P Israel, Gina Elizabeth Moreno Gordon, Valeria S P Veloso, Gabriela Sevignani, Carolina Teles Barretto, Maria Gabriela Rosa, Roberta C Pascotto, Gelzie S Ennes, Eduarda Morgana da Silva Montenegro Malaguti Souza, Marcia Goncalves Ribeiro, Luis Gustavo Modelli de Andrade
Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease. Molecular genetics and metabolism 143 (1-2) (2024)
Teppei Shirakura, Lakshmipriya Krishnamoorthy, Preeti Paliwal, Geoffrey Hird, Kerryn McCluskie, Peter McWilliams, Miao He, Moulay Hicham Alaoui Ismaili
In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. Molecular genetics and metabolism 143 (1-2) (2024)
Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, Fernanda Hendges de Bitencourt, Tássia Tonon, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Maria Efigênia de Queiroz Leite, Tatiana Amorim, Gilda Porta, João Seda Neto, Irene Kazumi Miura, Carlos Eduardo Steiner, Ana Maria Martins, André Luiz Santos Pessoa, Erlane Marques Ribeiro, Ida Vanessa Doederlein Schwartz
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing. Molecular genetics and metabolism 143 (1-2) (2024)
Matheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William J Craigen, Filippo Pinto E Vairo
Developing a scoring system for gene curation prioritization in lysosomal diseases. Molecular genetics and metabolism 143 (1-2) (2024)
Kathryn R Spears, Francis Rossignol, Monique B Perry, Michael A Kayser, Pim Suwannarat, Kevin E O'Brien, Joy C Bryant, Wendy F Greenwood, Steve Fuller, William A Gahl, Wendy J Introne
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial. Molecular genetics and metabolism 143 (1-2) (2024)
Matthias Zielonka, Stefan Kölker, Sven F Garbade, Florian Gleich, Sandesh C S Nagamani, Andrea L Gropman, Ann-Catrin Druck, Nesrine Ramdhouni, Laura Göde, Georg F Hoffmann, Roland Posset, null null
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders. Molecular genetics and metabolism 143 (1-2) (2024)
Yuki Shiro, Syouichi Katayama, Haruka Tsukamoto, Tetsuo Yamazaki
Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6. Molecular genetics and metabolism 143 (1-2) (2024)
Patrica L Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Kimiyo Raymond, Matthew J Schultz
Sensitivity of transferrin isoform analysis for PMM2-CDG. Molecular genetics and metabolism 143 (1-2) (2024)
Ahmad Fokra, Hagit Baris Feldman, Alina Kurolap, Safa Kinaneh, Zaid Abassi, Tova Hershkovitz
Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype. Molecular genetics and metabolism 143 (1-2) (2024)
Livia Interdonato, Nastassja Himmelreich, Sven F Garbade, Dan Wen, Marina Morath, Rosanna Di Paola, Vittorio Calabrese, Christian Thiel, Verena Peters
Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation. Molecular genetics and metabolism 143 (1-2) (2024)
Shawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, Gerard T Berry, Dorothy K Grange, Cary O Harding, Elaina Jurecki, Harvey Levy, Nicola Longo, Hadley Morotti, Stephanie Sacharow, Janet Thomas, Desiree A White
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Molecular genetics and metabolism 143 (1-2) (2024)
Kimberly A Coughlan, Marianne Eybye, Nicholas Henderson, Christine M DeAntonis, Andrea Frassetto, Erin Hanahoe, Tatiana Ketova, Eric Jacquinet, Vladimir Presnyak, Ruchi Jain, John Marshall, Paolo G V Martini
Improved therapeutic efficacy in two mouse models of methylmalonic acidemia (MMA) using a second-generation mRNA therapy. Molecular genetics and metabolism 143 (1-2) (2024)
Joseph Muenzer, Hernan Amartino, Barbara K Burton, Maurizio Scarpa, Anna Tylki-Szymańska, Jennifer Audi, Jaco Botha, Daniel Fertek, David Merberg, Madhusudan Natarajan, David A H Whiteman, Roberto Giugliani
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey. Molecular genetics and metabolism 143 (1-2) (2024)
Anne Tomm, Alena G Thiele, Carmen Rohde, Stefanie Kirmse, Wieland Kiess, Skadi Beblo
Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA). Molecular genetics and metabolism 143 (1-2) (2024)
David J Bernard, Faith Pangilinan, Caitlin Mendina, Tara Desporte, Stephen M Wincovitch, Darren J Walsh, Richard K Porter, Anne M Molloy, Barry Shane, Lawrence C Brody
SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane. Molecular genetics and metabolism 143 (1-2) (2024)
Susan E Waisbren, Shawn E Christ, Deborah A Bilder, Kendra J Bjoraker, Scout Bolton, Sarah Chamberlin, Mitzie L Grant, Darren M Janzen, Rachel Katz, Eugene Lubliner, Arianna Martin, Kelsey McQueen, Olga Moshkovich, Mina Nguyen-Driver, Soo Shim, Arianna K Stefanatos, Greta Wilkening, Cary Harding
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup. Molecular genetics and metabolism 143 (1-2) (2024)
Vanja Sikirica, Ethan J Schwartz, Jerry Vockley, Kathy Stagni, M Alex Bellenger, Geetanjoli Banerjee, Neha Durgam, Olga Moshkovich
Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ). Molecular genetics and metabolism 143 (1-2) (2024)
B C Schwahn, K Barvíková, H T Wu, A Horman, E Emmett, V Kožich
Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate. Molecular genetics and metabolism 143 (1-2) (2024)
Allisandra K Rha, Shih-Hsin Kan, Perla Andrade-Heckman, Chloe L Christensen, Jerry F Harb, Raymond Y Wang
Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells. Molecular genetics and metabolism 143 (1-2) (2024)
Bibiche den Hollander, Hoang Lan Le, Eleonora L Swart, Hennie Bikker, Carla E M Hollak, Marion M Brands
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review. Molecular genetics and metabolism 143 (1-2) (2024)
Meshal Almutair, Farah Thabet, Khalid Hundallah, Brahim Tabarki
CIC variants and folinic acid-responsive seizures. Molecular genetics and metabolism 143 (1-2) (2024)
Priya S Kishnani, Yin-Hsiu Chien, Kenneth I Berger, Nate Thibault, Susan Sparks
Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease. Molecular genetics and metabolism 143 (1-2) (2024)
Nandaki Keshavan, Shamima Rahman
Natural history of deoxyguanosine kinase deficiency. Molecular genetics and metabolism 143 (1-2) (2024)
Zach Fyke, Rachel Johansson, Anna I Scott, Devin Wiley, Daniel Chelsky, Joseph D Zak, Nader Al Nakouzi, Kevin P Koster, Akira Yoshii
Reduction of neuroinflammation and seizures in a mouse model of CLN1 batten disease using the small molecule enzyme mimetic, N-Tert-butyl hydroxylamine. Molecular genetics and metabolism 143 (1-2) (2024)

volume 142, number 4, 2024

Roni Zemet, Kyle D Hope, Andrew C Edmondson, Rameen Shah, Maria Patino, Abigail M Yesso, Justin H Berger, Kyriakie Sarafoglou, Austin Larson, Christina Lam, Eva Morava, Fernando Scaglia
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Molecular genetics and metabolism 142 (4) (2024)
Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi, Omar Sherbini, Nowa Bronner, Akshilkumar Patel, Ariel Vincent, Anjana Sevagamoorthy, Sylvia Mutua, Kayla Muirhead, Johanna Schmidt, Amy Pizzino, Emily Yu, Danielle Jin, Florian Eichler, Jamie L Fraser, Lisa Emrick, Keith Van Haren, Jean-Martin Boulanger, Maura Ruzhnikov, Michel Sylvain, Cam-Tu Émilie Nguyen, Ana Potic, Stephanie Keller, Ali Fatemi, Eloise Uebergang, Michele Poe, Pouneh Amir Yazdani, John Bernat, Kristen Lindstrom, Joshua L Bonkowsky, Genevieve Bernard, Chloe A Stutterd, Paul Orchard, Ashish O Gupta, Merete Ljungberg, Sabine Groenborg, Alberto Zambon, Sara Locatelli, Francesca Fumagalli, Saskia Elguen, Christiane Kehrer, Ingeborg Krägeloh-Mann, Justine Shults, Adeline Vanderver, Maria L Escolar
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Molecular genetics and metabolism 142 (4) (2024)
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Hans C Andersson, Evgenia Sklirou, Queenie K G Tan, Rodrigo T Starosta, Mustafa Sadek, Lynne Wolfe, Seishu Horikoshi, May Ali, Rita Barone, Teresa Campbell, Irene J Chang, Kiaira Coles, Edward Cook, Erik A Eklund, Nicole M Engelhardt, Mary Freeman, Jennifer Friedman, Debbie Y T Fu, Grace Botzo, Brandy Rawls, Christien Hernandez, Christin Johnsen, Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski, Ivan Martinez-Duncker, Gina L Mazza, Saadet Mercimek-Andrews, Bradley S Miller, Karthik Muthusamy, Juanita Neira, Marc C Patterson, Natalie Pogorelc, Lex N Powers, Elizabeth Ramey, Michaela Reinhart, Audrey Squire, Jenny Thies, Jerry Vockley, Hayden Vreugdenhil, Peter Witters, Mehdi Youbi, Aziza Zeighami, Roni Zemet, Andrew C Edmondson, Eva Morava
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Molecular genetics and metabolism 142 (4) (2024)
Roni Zemet, Kyle D Hope, Andrew C Edmondson, Rameen Shah, Maria Patino, Abigail M Yesso, Justin H Berger, Kyriakie Sarafoglou, Austin Larson, Christina Lam, Eva Morava, Fernando Scaglia
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Molecular genetics and metabolism 142 (4) (2024)
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Hans C Andersson, Evgenia Sklirou, Queenie K G Tan, Rodrigo T Starosta, Mustafa Sadek, Lynne Wolfe, Seishu Horikoshi, May Ali, Rita Barone, Teresa Campbell, Irene J Chang, Kiaira Coles, Edward Cook, Erik A Eklund, Nicole M Engelhardt, Mary Freeman, Jennifer Friedman, Debbie Y T Fu, Grace Botzo, Brandy Rawls, Christien Hernandez, Christin Johnsen, Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski, Ivan Martinez-Duncker, Gina L Mazza, Saadet Mercimek-Andrews, Bradley S Miller, Karthik Muthusamy, Juanita Neira, Marc C Patterson, Natalie Pogorelc, Lex N Powers, Elizabeth Ramey, Michaela Reinhart, Audrey Squire, Jenny Thies, Jerry Vockley, Hayden Vreugdenhil, Peter Witters, Mehdi Youbi, Aziza Zeighami, Roni Zemet, Andrew C Edmondson, Eva Morava
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Molecular genetics and metabolism 142 (4) (2024)
Ewa Stefanik, Magda Dubińska-Magiera, Damian Lewandowski, Małgorzata Daczewska, Marta Migocka-Patrzałek
Metabolic aspects of glycogenolysis with special attention to McArdle disease. Molecular genetics and metabolism 142 (4) (2024)
Joseph Muenzer, Carole Ho, Heather Lau, Mark Dant, Maria Fuller, Nidal Boulos, Patricia Dickson, N Matthew Ellinwood, Simon A Jones, Eric Zanelli, Cara O'Neill
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses. Molecular genetics and metabolism 142 (4) (2024)
Rebecca D Ganetzky
The future of mitochondrial medicine requires both lumping and splitting. Molecular genetics and metabolism 142 (4) (2024)
Nathalie Guffon, Barbara K Burton, Can Ficicioglu, Martin Magner, Mercedes Gil-Campos, Monica A Lopez-Rodriguez, Parul Jayakar, Allan M Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina M Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara S Cathey, Julia B Hennermann, Christina Lampe, Markey McNutt, Florian B Lagler, Maurizio Scarpa, V Reid Sutton, Nicole Muschol
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study. Molecular genetics and metabolism 142 (4) (2024)
Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi, Omar Sherbini, Nowa Bronner, Akshilkumar Patel, Ariel Vincent, Anjana Sevagamoorthy, Sylvia Mutua, Kayla Muirhead, Johanna Schmidt, Amy Pizzino, Emily Yu, Danielle Jin, Florian Eichler, Jamie L Fraser, Lisa Emrick, Keith Van Haren, Jean-Martin Boulanger, Maura Ruzhnikov, Michel Sylvain, Cam-Tu Émilie Nguyen, Ana Potic, Stephanie Keller, Ali Fatemi, Eloise Uebergang, Michele Poe, Pouneh Amir Yazdani, John Bernat, Kristen Lindstrom, Joshua L Bonkowsky, Genevieve Bernard, Chloe A Stutterd, Paul Orchard, Ashish O Gupta, Merete Ljungberg, Sabine Groenborg, Alberto Zambon, Sara Locatelli, Francesca Fumagalli, Saskia Elguen, Christiane Kehrer, Ingeborg Krägeloh-Mann, Justine Shults, Adeline Vanderver, Maria L Escolar
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Molecular genetics and metabolism 142 (4) (2024)
Jasmine Koch, Melissa H Broeks, Matthias Gautschi, Judith Jans, Alexander Laemmle
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models. Molecular genetics and metabolism 142 (4) (2024)
Zackary M Herbst, Stephan Hold, Michael H Gelb, Hamid Khaledi
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening. Molecular genetics and metabolism 142 (4) (2024)
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Hans C Andersson, Evgenia Sklirou, Queenie K G Tan, Rodrigo T Starosta, Mustafa Sadek, Lynne Wolfe, Seishu Horikoshi, May Ali, Rita Barone, Teresa Campbell, Irene J Chang, Kiaira Coles, Edward Cook, Erik A Eklund, Nicole M Engelhardt, Mary Freeman, Jennifer Friedman, Debbie Y T Fu, Grace Botzo, Brandy Rawls, Christien Hernandez, Christin Johnsen, Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski, Ivan Martinez-Duncker, Gina L Mazza, Saadet Mercimek-Andrews, Bradley S Miller, Karthik Muthusamy, Juanita Neira, Marc C Patterson, Natalie Pogorelc, Lex N Powers, Elizabeth Ramey, Michaela Reinhart, Audrey Squire, Jenny Thies, Jerry Vockley, Hayden Vreugdenhil, Peter Witters, Mehdi Youbi, Aziza Zeighami, Roni Zemet, Andrew C Edmondson, Eva Morava
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Molecular genetics and metabolism 142 (4) (2024)