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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-03-18 Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi, Russel D'Aiello, Nicholson B. Modesti, Emily Yu, Sylvia Mutua, Emma Kotes, Justine Shults, Ariel Vincent, Lisa T. Emrick, Stephanie Keller, Keith P. Van Haren, Sarah Woidill, Isabella Barcelos, Amy Pizzino, Johanna L. Schmidt, Florian Eichler, Ali Fatemi, Adeline Vanderver
Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural
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Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-03-14 Lucia Santoro, Graziella Cefalo, Fabrizio Canalini, Silvia Rossi, Maurizio Scarpa
Alpha-mannosidosis is an ultra-rare lysosomal disease that is caused by variants of the gene on chromosome 19p13. These variants result in faulty or absent alpha-mannosidase in lysosomes, which leads to intracellular accumulation of mannose-containing oligosaccharides.
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Glycosphingolipids in congenital disorders of glycosylation (CDG) Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-03-05 Andrea Jáñez Pedrayes, Daisy Rymen, Bart Ghesquière, Peter Witters
Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity. Associating specific symptoms to deficiencies of certain glycoproteins or glycolipids is thus a challenging
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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-03-04 Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, Melissa L. DiBacco, Sarah H. Elsea, Àngels García-Cazorla, K. Michael Gibson, Andrea L. Gropman, Ellen Hanson, Carolyn Hoffman, Kathrin Jeltsch, Natalia Juliá-Palacios, Ina Knerr, Henry H.C. Lee, Patrizia Malaspina, Alice McConnell, Thomas Opladen, Mari Oppebøen, Alexander Rotenberg, Mark Walterfang, Lee Wang-Tso, Ron A. Wevers, Jean-Baptiste Roullet
Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of . Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language
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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-03-02 Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi, Raquel Fernandez, Kim Hart, Nicola Longo, Nicole Liang, Daniel Reich, Heidi Wallis, Meredith Weaver, Sarah Young, Saadet Mercimek-Andrews
Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by and arginine-glycine amidinotransferase (AGAT), encoded by which are involved in the synthesis of creatine. After synthesis, creatine is taken up by a sodium-dependent membrane bound creatine transporter
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Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-29 Allysa M. Kuypers, Kimber Evers-van Vliet, Anita MacDonald, Kirsten Ahring, David Abeln, Suzanne Ford, Sanne Hildebrandt-Karlsen, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Phenylketonuria (PKU) requires regular phenylalanine monitoring to ensure optimal outcome. However, home sampling methods used for monitoring suffer high pre-analytical variability, inter-laboratory variability and turn-around-times, highlighting the need for alternative methods of home sampling or monitoring. A survey was distributed through email and social media to (parents of) PKU patients and
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The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-27 Sarah Donoghue, Jordan Wright, Anne K. Voss, Paul J. Lockhart, David J. Amor
The Mendelian disorders of chromatin machinery (MDCMs) represent a distinct subgroup of disorders that present with neurodevelopmental disability. The chromatin machinery regulates gene expression by a range of mechanisms, including by post-translational modification of histones, responding to histone marks, and remodelling nucleosomes. Some of the MDCMs that impact on histone modification may have
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Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-23 Erru Yang, Eliza Kruger, David Yin, Kieran Mace, Meghan Tierney, Noelle Liao, Emily Cibelli, Dan Drozd, Nathan Ross, Kathleen L. Deering, Peter Herout, Qing Harshaw, Alicia Shillington, Nina Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley
Major clinical events (MCEs) related to long-chain fatty acid oxidation disorders (LC-FAOD) in triheptanoin clinical trials include inpatient or emergency room (ER) visits for three major clinical manifestations: rhabdomyolysis, hypoglycemia, and cardiomyopathy. However, outcomes data outside of LC-FAOD clinical trials are limited. The non-interventional cohort LC-FAOD Odyssey study examines data derived
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A review of fatty acid oxidation disorder mouse models Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-23 Shannon J. Babcock, Sander M. Houten, Melanie B. Gillingham
Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited
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Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-20 Teresa H.Y. WU, Heather A. Brown, Heather J. Church, Christopher J. Kershaw, Rebekah Hutton, Christine Egerton, James Cooper, Karen Tylee, Rebecca N. Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael Henderson, Brian W. Bigger, Simon A. Jones
Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity and an accumulation of undegraded sulphatide due to pathogenic variants in the gene. Atidarsagene autotemcel (arsa-cel), an ex vivo haematopoietic stem cell gene therapy
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Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-16 Laura E. MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, Elizabeth M. McCormick, Colleen C. Muraresku, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Marni J. Falk
Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking quantifiable patient-specific outcomes and integrating subjective data with clinical data to monitor disease progression and targeted therapeutic effects. Electronic
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Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS) Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-13 Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson B. Modesti, Anjana Sevagamoorthy, Adeline Vanderver, Laura Adang
Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS includes a broad phenotypic spectrum which is only partially explained by genotype. To better characterize this variability, we will perform a systematic analysis of phenotypic variability in familial cases of AGS. Among thirteen families, twenty-six siblings
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Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-13 Bibiche den Hollander, Marion M. Brands, Ilse J.M. Nijhuis, Lous J.A.E. Doude van Troostwijk, Peter van Essen, Geesje H. Hofsteenge, Bart G. Koot, Annelieke R. Müller, Laura A. Tseng, Erik S.G. Stroes, Peter M. van de Ven, Albert Wiegman, Clara D.M. van Karnebeek
Lipoprotein lipase (LPL) deficiency, a rare inherited metabolic disorder, is characterized by high triglyceride (TG) levels and life-threatening acute pancreatitis. Current treatment for pediatric patients involves a lifelong severely fat-restricted diet, posing adherence challenges. Volanesorsen, an EMA-approved RNA therapy for adults, effectively reduces TG levels by decreasing the production of
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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-10 Tanguy Demaret, Karine Bédard, Jean-François Soucy, David Watkins, Pierre Allard, Alina Levtova, Alan O'Brien, Catherine Brunel-Guitton, David S. Rosenblatt, Grant A. Mitchell
Mutations in cause cobalamin C disease (cblC, OMIM ), the commonest inborn error of vitamin B metabolism. In cblC, deficient activation of cobalamin results in methylcobalamin and adenosylcobalamin deficiency, elevating methylmalonic acid (MMA) and total plasma homocysteine (tHcy). We retrospectively reviewed the medical files of seven cblC patients: three compound heterozygotes for the (NM_015506
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Corrigendum to “On emerging enzyme replacement therapies for neuronopathic mucopolysaccharidosis II” [Molecular Genetics and Metabolism Volume 141, Issue 3 (2024) 108143] Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-09 Y. Sato, P. Yoshida, T. Yamamoto, S. So, K. Tanizawa
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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-03 Caide Bier, Kaelin Dickey, Brittan Bibb, Angela Crutcher, Rebecca Sponberg, Richard Chang, Monica Boyer, Laura Davis-Keppen, Cindy Matthes, Michelle Tharp, Danielle Vice, Erin Cooney, Megan Morand, Joseph Ray, Melissa Lah, Markey McNutt, Hans C. Andersson
Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range that is safe for neurologic function. Elevated plasma Phe is a risk factor for congenital anomalies and developmental delay in offspring resulting from pregnancies with poor Phe control in women with PKU. Enzyme supplementation with pegvaliase allows adults with PKU to eat an unrestricted diet and have plasma Phe levels
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Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-02-02 Iris Scala, Lucia Brodosi, Daniela Gueraldi, Filippo Manti, Valentina Rovelli, Juri Zuvadelli, Giulio Agnelli, Chiara Cazzorla, Francesca Nardecchia, Antonina Giammanco, Giacomo Biasucci
The aim of this study is to present a series of case studies on the real-life use of pegvaliase in Italy in managing patients affected by phenylketonuria (PKU) and provide practical insight and support to healthcare professionals currently approaching and facing this novel enzyme substitution therapy. A panel of 11 PKU experts from seven leading Italian treatment centers attended online virtual meetings
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Design of a multi-center randomized active controlled phase 3 clinical trial (HURCULES) evaluating the safety and efficacy of OTL-203 in patients with MPS IH versus standard of care with allogeneic hematopoietic stem cell transplantation Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Paul J. Orchard, Robert F. Wynn, Sandhya Kharbanda, Rebecca Ahrens-Nicklas, Peter M. van Hasselt, Troy C. Lund, Timothy S. Olson, Francesca Tucci, Leonie Martin, Nathalie Boeglin, Jean Brooks, Su Syonmez, Laura Campbell, Paul Harmatz, Simon A. Jones, Ashish O. Gupta, Maria Ester Bernardo
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The role of GC–MS in organic acidurias diagnosis in Moroccan population Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Samira Najeh, Es-Said Sabir, Imane Assiri, Miloud Hammoud, Karima Lafhal, Maroua Jakani, Abdelaati Berrachid, My Ahmed Elamiri, Lhoucine Gebrati, Abdelkader Outzouhrit, Naima Fdil
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Optimal stoichiometry of CRISPR-Cas9 components in the PS Gene-editing System Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Michael J. Przybilla, Hanna Saveraid, Li Ou, Chester B. Whitley
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Changes in CSF GAG after intravenous enzyme replacement therapy Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Troy Lund, Ashish Gupta, Elizabeth Braunlin, Lynda Polgreen, Paul J. Orchard, Julie B. Eisengart
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Using iNSC patient-derived oligodendrocytes to characterize small molecules for globoid-cell leukodystrophy Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Anusha Aditya, Yi-Han Lin, Dingyin Tao, Xin Hu, Yuhong Fang, Christopher LeClair, Mark Henderson, Ezra Yohannan-Cheria, Renu Nandakumar, Juan Marugan, Gustavo Maegawa
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Medical education needs to improve diagnosis of Fabry disease in the UK Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Stuart Gaffney, Kamran Iqbal, Phil Dawson, Thomas Kenny
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A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Kathleen E. Meyer, Florence Lorget, Gregg Prawdzik, Marina Falaleeva, Liching Cao, Lillian Falese, Marshall W. Huston, Khaled Hettini, Yanmei Lu, Annemarie Ledeboer
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New blood-based biomarkers for Sanfilippo syndrome Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Gal Bitan, Hash Brown Taha, Ibrar Siddique, Lea M. Chamoun, Kimia Mohseni, Alanna J. Morris, Anna Luzzi, Jonathan Acevedo, Adolfo Morales, Giselle Perez de la Garza, Elabed Nour, Marie Khijniak, Leony Fenwick, Agnes Chen, Michelina Iacovino, Cara O'Neill, Julie B. Eisengart, Lynda Polgreen
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Experiences and challenges of pregnancies in a patient with mucolipidosis type III Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Charlotte Aries, Mona Lindschau, Cornelia Rudolph, Nicole M. Muschol
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A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Dongkyu Jin, Jinsup Kim, Aram Yang, SooKyung Shin
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Bone resorption biomarkers and proinflammatory cytokines in Gaucher disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Julia Dao, Neala Loynab, Sohailla Noor, Ozlem Goker-Alpan, Margarita Ivanova
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Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Yoshikatsu Eto, Roberto Giugliani, Kimitoshi Nakamura, Norio Sakai, Ana Maria Martins, Kazunori Tanizawa, Sairei So, Tatsuyoshi Yamamoto, Ricardo Cunegundes, Toshiaki Ikeda, Hiroaki Moriuchi, Mathias Schmidt, Yuji Sato
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DNL310 normalizes primary storage substrates, corrects biomarkers of lysosomal dysfunction and reduces biomarkers of neuronal injury (neurofilament light chain) in MPS II: 2-year interim analysis of a phase 1/2 study Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Akhil Bhalla, Khishig Tsogtbaatar, Chau Tran, Ritesh Ravi, Meng Fang, Imanol Zubizarreta, Rupa Caprihan, Ajith Karunakara, Yuda Zhu, Elizabeth Sinclair, Dominique Jacquemet-Engelhart, Johannes Kast, Tony Hung, Kimberly Scearce-Levie, Matt Troyer, Peter Chin, Katia Meirelles, Anna Bakardjiev
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Morphological hallmarks of classical Fabry disease: An ultrastructural study in a large Spanish family Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Saida Ortolano, Beatriz San Millan Tejado, Jorge Julián Fernández-Martín, Alberto Jose Rivera Gallego, Irene Vieitez, Susana Teijeira
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Rare complication in late-onset Pompe disease: A case report Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Deepthy Joseph, Jasmen Cabides, Uma Ramaswami
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Unexpected high frequency of Krabbe disease detected by newborn screening in Italy Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Alberto Burlina, Daniela Gueraldi, Andrea Puma, Chiara Cazzorla, Christian Loro, Vincenza Gragnaniello
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Synthetic peptide AVP6 rescues neurological manifestations in diseases of mucopolysaccharidosis type III spectrum Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Alexey Pshezhetsky
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Nonclinical studies in non-human primates on ABX1100: A centyrin:Gys1 siRNA conjugate for the treatment of Pompe disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Steven Nadler
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Swallowing disturbance is an important feature of neurological lysosomal disease: For patients and families Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Aidan Gill, Gisela Linthorst, Daniel Lewi
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Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Sylvia Mutua, Anjana Sevagamoorthy, Francesco Gavazzi, Nivedita Thakur, Sarah Woidill, Emily Yu, Francesca Fumagalli, Samuel Groeschel, Genevieve Bernard, Chloe Stutterd, Christiane Kehrer, Lisa Emrick, Justine Shults, Adeline Vanderver, Laura A. Adang
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Rare Disease Difference Maker® program Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Skyler K. Jackson, Anne Rugari, Reena V. Kartha
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VavCre mediated conditional deletion of in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Shiny Nair, Glenn Belinsky, Pramod K. Mistry
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Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Fabiano O. Poswar, Raquel Schneider, Esteban A. Gonzalez, Luz Elene Durán Carabali, Carolina Fischinger Moura de Souza, Angela B. Santos, Guilherme Baldo, Roberto Giugliani
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Multiorgan involvement in females with Fabry disease: Results from two phase III trials and the followME registry Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Peter Nordbeck, Derralynn A. Hughes, Albina Nowak, Robert J. Hopkin, Biliana O. Veleva-Rotse, Eva Krusinska, Ana Jovanovic
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Single vs. dual transgene gene therapy for multiple sulfatase deficiency Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Vi Pham, Lucas Tricoli, Parith Wongkittichote, Xinying Hong, Lars Schlotawa, Stefano Rivella, Rebecca Ahrens-Nicklas
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The development and application of a rapid and more informative test for autoantibodies to enzyme replacement therapies in Fabry disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Tomas Baldwin, Ivan Doykov, Hibba Kurdi, James Moon, Derralynn Hughes, Kevin Mills, Wendy E. Heywood
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Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Asma Farjallah, Pamela Lavoie, Bruno Maranda, Roberto Giugliani, Christiane Auray-Blais
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Brain targeted AAV-GALC gene therapy reduces psychosine and extends lifespan in a mouse model of Krabbe disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Chris W. Lee, Hui Peng, Aimee R. Herdt, Elizabeth A. Eckman
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The burden of Fabry disease in the United States: Results from the Adelphi Fabry Disease Specific Programme Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Patricia Dorling, Khashayar Azimpour, Jennifer Mellor, Niall Hatchell, Megan Rutherford, Angie Raad
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Gene modified hematopoietic stem cell transplantation for mucopolysaccharidosis type IIIC Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Rafael A. Badell-Grau, Anusha Sivakumar, Kasra Pakravesh, Rola Chen, Kalvin Duong, Pauline Losay, Veenita Khare, Kevin E. Thai, Rushil Pithia, Frankie Son, Alexis N. Corl, Christine Tran, Stephanie Cherqui
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Cardiac biomarkers in Fabry disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Pooja Nandi, Robert Ellis, Biliana O. Veleva-Rotse, Jennifer Hiros, Paul Howard
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A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Logan M. Glasstetter, Tiffany T.-Y. Jong, Darian Williams, Mark Henderson, Yu Chen, Ellen Sidransky
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How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Heather J. Church, Kathryn L. Brammeier, June Petty, Christine Egerton, Simon A. Jones, Ellen Crushell, Arunabha Ghosh, Karolina M. Stepien, Karen L. Tylee
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Measuring the intangible cost of lysosomal disorders: Fabry disease, Gaucher disease type 3, and GM2 gangliosidosis Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Nicole Lyn, Sarah Ba, Christina A. Graham, France Sowell, Emily Ruzich, Robert Krupnick, Ruth Pulikottil-Jacob
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M021 (rhGAA) has a unique glycosylation profile which enables more efficient glycogen reduction and may allow for alternative Pompe ERT dosing strategies Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Kylie J. Gray, Michael DiGruccio, Jonathan Roberts, Vaughn Weaver, Riley Marcinczyk, Linda Lyons, Udayanga Wanninayake, Shou Liu, Nastry Brignol, Osman Sheikh, Clarissa Booth, Steven B. Ortmeier, Katherine White, Hung Do, Russell Gotshall
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Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Dominique P. Germain, Fathiya Al Murshedi, Fatma Al Jasmi, Gheona Altarescu, Olga Azevedo, Fellype C. Barreto, Fatih Ezgu, Dawn A. Laney, Sergey Moiseev, Kotaro Nochioka, Yan Ouyang, Huseyin Onay, Mary Pavlou, Nicholas Pachter, Juan Politei, Rawda Sunbul, Rick Steeds, Wen-Chung Yu, Michael L. West, Manish Maski, Irina Maksimova
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Dentate gyrus developmental timeline in CLN3 (Batten disease) mice Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Devin M. Burris, Jeet B. Singh, Luis Tecedor, Rebecca Ahrens-Nicklas
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Guidelines on self-management of Gaucher disease Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Paul Guijt, Irena Znidar, Magy Abdelwahab
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Fabry disease pre-treatment patterns in United States claims data Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Alexandra Dumitriu, Gandarvaka Miles, Irina Maksimova, Ana Crespo, Andrea Ocampo, Queeny Ip, Michael Jordan, Natalia Petruski-Ivleva, Roberto Araujo
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Distinct biomarker clusters in male and female with Fabry disease cardiomyopathy: An integrated matrix analysis Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Omar Abu Slayeh, Julia Dao, Andrew Friedman, Ozlem Goker-Alpan, Margarita Ivanova
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Mini-COMET study: Safety and efficacy data after avalglucosidase alfa dosing for ≥ 145 weeks in participants with infantile-onset Pompe disease (IOPD) who had demonstrated clinical decline or sub-optimal response while receiving alglucosidase alfa Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 David Kronn, Priya Kishnani, James Davison, Anais Brassier, Alexander Broomfield, Sihoun Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, Kristina An Haack, Susan Sparks, Swathi Tammireddy, Atef Zaher, Tianyue Zhou, Yin-Hsiu Chien
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A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW) Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Roberto Giugliani, Daniel A.D. Valle, Dafne Horovitz, Ana Maria Martins, Laetitia Crapard, Emilie Doppler, Noemie Hurst, Laura López de Frutos, Cecile Paquet Luzy
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Hampered differentiation and disrupted -lysosomal function in a human neuronal in vitro model of mucopolysaccharidosis type II Mol. Genet. Metab. (IF 3.8) Pub Date : 2024-01-31 Lorenzo Badenetti, Rosa Manzoli, Enrico Moro