Papers matching “inborn errors of metabolism” 36
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Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism2026 Bone Marrow Transplantation article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
M.H. Albert, Arjan C. Lankester, Robert Wynn, A. R. Gennery, Manfred Hoenig, Alexandra Y. Kreins, +5 more
3citations -
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships2023 Journal of Inherited Metabolic Disease article Economics, Econometrics and Finance Pharmaceutical Economics and Policy Open access
Noa Rosenberg, Nina N. Stolwijk, Sibren van den Berg, Joris J. Heus, Vincent van der Wel, Teun van Gelder, +3 more
11citations -
A Multiomic Network Approach to Uncover Disease Modifying Mechanisms of Inborn Errors of Metabolism2025 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Aaron S. Bender, Pablo Ranea‐Robles, Evan G. Williams, Mina Mirzaian, J. Alexander Heimel, Christiaan Nicolaas Levelt, +6 more
0citations -
A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Aaron S. Bender, Pablo Ranea‐Robles, Evan G. Williams, Mina Mirzaian, J. Alexander Heimel, Christiaan Nicolaas Levelt, +6 more
0citations -
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism2023 Movement Disorders article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Lisette Henriëtta Koens, Marrit R. Klamer, Deborah A. Sival, Bettina Balint, Kailash P. Bhatia, Maria Fiorella Contarino, +11 more
5citations -
Predicting Patient Death after Allogeneic Stem Cell Transplantation for Inborn Errors Using Machine Learning (PREPAD): A European Society for Blood and Marrow Transplantation Inborn Errors Working Party Study2023 Transplantation and Cellular Therapy article Medicine Hematopoietic Stem Cell Transplantation Open access
Erik G. J. von Asmuth, Bénédicte Neven, Michael H. Albert, Alexander B. Mohseny, Marco W. Schilham, Harald Binder, +2 more
8citations -
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review2023 International Journal of Molecular Sciences review Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Federica Conte, Juda-El S. Jno Baptiste - Sam, Dirk J. Lefeber, Robert C. J. J. Passier
26citations -
Decision making on HSCT in patients with hemoglobinopathies; an EBMT Pediatric Diseases Working Party and Inborn Errors Working Party scenario-based survey on physicians’ perspectives
Hilda Mekelenkamp, Benny Markovitch, Tiarlan Sirait, Arwen H. Pieterse, Joëll E. Bense, Katharina Kleinschmidt, +5 more
2citations -
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Alejandro Garanto, Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau
12citations -
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria2022 Scientific Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sien Lequeue, Jessie Neuckermans, Ine Nulmans, Ulrich Schwaneberg, Tamara Vanhaecke, Joery De Kock
5citations -
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification2022 Circulation Genomic and Precision Medicine article Medicine Cardiomyopathy and Myosin Studies Open access
Marijke H. van der Meulen, Johanna C. Herkert, Susanna L. den Boer, Gideon J. du Marchie Sarvaas, Nico A. Blom, Arend D.J. ten Harkel, +13 more
21citations -
Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease2020 FEBS Journal article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Agnieszka B. Wegrzyn, Katharina Herzog, Albert Gerding, Marcel Kwiatkowski, Justina Clarinda Wolters, Amalia M. Dolga, +4 more
15citations -
Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants2026 Nutrients article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marco Scaglione, Maria Grazia Calevo, Sara Pessano, Francesca Nastasia Perri, Stefano Mariani, Paolo Massirio, +7 more
0citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Personalized whole‐body models integrate metabolism, physiology, and the gut microbiome2020 Molecular Systems Biology article Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access cited by 4 patents
Ines Thiele, Swagatika Sahoo, Almut Heinken, Johannes Hertel, Laurent Heirendt, Maike Kathrin Aurich, +1 more
218citations -
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology2020 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Alejandro Fulgencio-Covián, Mar Álvarez, Barry A. Pepers, Arístides López‐Márquez, Magdalena Ugarte, Belén Pérez, +3 more
4citations -
Recent developments in the analytical approaches of acyl-CoAs to assess their role in mitochondrial fatty acid oxidation disorders2023 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Madhulika Singh, Hyung Lim Elfrink, Amy C. Harms, Thomas Hankemeier
7citations -
PKU dietary handbook to accompany PKU guidelines2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, +11 more
258citations -
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha ( PI4K2A ) at the membrane‐enzyme interface is associated with metabolic cutis laxa2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne van Kraaij, +14 more
10citations -
Opportunities and challenges for antisense oligonucleotide therapies2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access cited by 1 patent
Elsa C. Kuijper, Atze J. Bergsma, W.W.M. Pim Pijnappel, Annemieke M Aartsma-Rus
155citations -
Psychological functioning in children suspected for mitochondrial disease: the need for care2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge‐Lot Klein, Mirian C. H. Janssen, Jan A.M. Smeitink, +1 more
10citations