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For: Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. J Inherit Metab Dis 2018;41:337-353. [PMID: 29453510 PMCID: PMC5959972 DOI: 10.1007/s10545-017-0131-6] [Citation(s) in RCA: 130] [Impact Index Per Article: 18.6] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/15/2017] [Revised: 12/17/2017] [Accepted: 12/21/2017] [Indexed: 12/30/2022]
Number Cited by Other Article(s)
1
Asef C, Moore SG, Pickens CA, Saavedra-Matiz CA, Orsini JJ, Petritis K, Gaul DA, Fernández FM. Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight-Metabolome Correlations. Anal Chem 2025;97:6563-6570. [PMID: 40100766 PMCID: PMC11966594 DOI: 10.1021/acs.analchem.4c06061] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2024] [Revised: 01/13/2025] [Accepted: 03/13/2025] [Indexed: 03/20/2025]
2
Ferreira EA, Oud MM, van der Crabben SN, Versloot M, Goorden SMI, van Karnebeek CDM, Kroon J, Langeveld M. Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants. Genes (Basel) 2025;16:289. [PMID: 40149441 PMCID: PMC11942003 DOI: 10.3390/genes16030289] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2025] [Revised: 02/16/2025] [Accepted: 02/17/2025] [Indexed: 03/29/2025]  Open
3
Verhoeven WMA, Pfundt R, Engelke UFH, Kluijtmans LAJ, Egger JIM. X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability. Int Med Case Rep J 2025;18:111-116. [PMID: 39845198 PMCID: PMC11753900 DOI: 10.2147/imcrj.s506204] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2024] [Accepted: 01/06/2025] [Indexed: 01/24/2025]  Open
4
Skogvold HB, Sand ES, Elgstøen KBP. Global Metabolomics Using LC-MS for Clinical Applications. Methods Mol Biol 2025;2855:23-39. [PMID: 39354299 DOI: 10.1007/978-1-0716-4116-3_2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/03/2024]
5
Engelke UFH, Zammit A, Gerritsen A, Michels MAHM, Coene KLM, Kluijtmans LAJ, Kulkarni P. Application of a Computational Metabolomics Workflow for the Diagnosis of Inborn Errors of Metabolism in a Laboratory Setting. Methods Mol Biol 2025;2855:555-571. [PMID: 39354327 DOI: 10.1007/978-1-0716-4116-3_30] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/03/2024]
6
Heath O, Feichtinger RG, Achleitner MT, Hofbauer P, Mayr D, Merkevicius K, Spenger J, Steinbrücker K, Steindl C, Tiefenthaler E, Mayr JA, Wortmann SB. Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know. Eur J Paediatr Neurol 2025;54:75-88. [PMID: 39793294 DOI: 10.1016/j.ejpn.2024.10.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/23/2024] [Revised: 09/30/2024] [Accepted: 10/21/2024] [Indexed: 01/13/2025]
7
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD. The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! J Inherit Metab Dis 2025;48:e12835. [PMID: 39777714 PMCID: PMC11707409 DOI: 10.1002/jimd.12835] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/10/2024] [Revised: 12/03/2024] [Accepted: 12/04/2024] [Indexed: 01/11/2025]
8
Garrett R, Ptolemy AS, Pickett S, Kellogg MD, Peake RWA. Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability. Clin Chem 2024;70:1452-1462. [PMID: 39365746 DOI: 10.1093/clinchem/hvae141] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2024] [Accepted: 08/23/2024] [Indexed: 10/06/2024]
9
Šikić K, Peters TMA, Engelke U, Petković Ramadža D, Žigman T, Fumić K, Davidović M, Huljev Frković S, Körmendy T, Martinelli D, Novelli A, Lepri FR, Wevers RA, Barić I. Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine. JIMD Rep 2024;65:361-370. [PMID: 39512429 PMCID: PMC11540564 DOI: 10.1002/jmd2.12439] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/05/2023] [Revised: 05/26/2024] [Accepted: 07/01/2024] [Indexed: 11/15/2024]  Open
10
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes. Clin Chem Lab Med 2024;62:1991-2000. [PMID: 38456798 DOI: 10.1515/cclm-2023-1291] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/14/2023] [Accepted: 02/22/2024] [Indexed: 03/09/2024]
11
Weerd JCVD, Wegberg AMJV, Boer TS, Engelke UFH, Coene KLM, Wevers RA, Bakker SJL, Blaauw PD, Groen J, Spronsen FJV, Heiner-Fokkema MR. Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients. Metabolites 2024;14:479. [PMID: 39330486 PMCID: PMC11434371 DOI: 10.3390/metabo14090479] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/18/2024] [Revised: 08/22/2024] [Accepted: 08/26/2024] [Indexed: 09/28/2024]  Open
12
Mansoor S, Qamar R, Azam M. Inborn errors of metabolism: Historical perspectives to contemporary management. Clin Chim Acta 2024;562:119883. [PMID: 39084485 DOI: 10.1016/j.cca.2024.119883] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/14/2024] [Revised: 07/17/2024] [Accepted: 07/18/2024] [Indexed: 08/02/2024]
13
Chaleckis R, Ito Y, Wasada H, Wheelock CE, Oishi H, Tomizawa M, Kamijima M. Fungicide Metabolite MS2 Spectral Libraries for Comprehensive Human Biomonitoring. JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY 2024;72:18247-18256. [PMID: 39101478 DOI: 10.1021/acs.jafc.4c02339] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 08/06/2024]
14
Verheijen FWM, Tran TNM, Chang J, Broere F, Zaal EA, Berkers CR. Deciphering metabolic crosstalk in context: lessons from inflammatory diseases. Mol Oncol 2024;18:1759-1776. [PMID: 38275212 PMCID: PMC11223610 DOI: 10.1002/1878-0261.13588] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2023] [Revised: 11/02/2023] [Accepted: 01/15/2024] [Indexed: 01/27/2024]  Open
15
van Wegberg AMJ, van der Weerd JC, Engelke UFH, Coene KLM, Jahja R, Bakker SJL, Huijbregts SCJ, Wevers RA, Heiner-Fokkema MR, van Spronsen FJ. The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria. J Inherit Metab Dis 2024;47:624-635. [PMID: 38556470 DOI: 10.1002/jimd.12732] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/17/2023] [Revised: 03/07/2024] [Accepted: 03/12/2024] [Indexed: 04/02/2024]
16
Ashenden AJ, Chowdhury A, Anastasi LT, Lam K, Rozek T, Ranieri E, Siu CWK, King J, Mas E, Kassahn KS. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. Int J Neonatal Screen 2024;10:42. [PMID: 39051398 PMCID: PMC11270328 DOI: 10.3390/ijns10030042] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/29/2024] [Revised: 06/13/2024] [Accepted: 06/13/2024] [Indexed: 07/27/2024]  Open
17
Khaghani F, Hemmati M, Ebrahimi M, Salmaninejad A. Emerging Multi-omic Approaches to the Molecular Diagnosis of Mitochondrial Disease and Available Strategies for Treatment and Prevention. Curr Genomics 2024;25:358-379. [PMID: 39323625 PMCID: PMC11420563 DOI: 10.2174/0113892029308327240612110334] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2024] [Revised: 05/03/2024] [Accepted: 05/21/2024] [Indexed: 09/27/2024]  Open
18
van Dijk MJ, Ruiter TJJ, van der Veen S, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Schutgens REG, van Solinge WW, Jans JJM, van Beers EJ, van Wijk R. Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease. Hemasphere 2024;8:e109. [PMID: 38919958 PMCID: PMC11196954 DOI: 10.1002/hem3.109] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2024] [Revised: 04/10/2024] [Accepted: 05/01/2024] [Indexed: 06/27/2024]  Open
19
Alotaibi AZ, AlMalki RH, Al Mogren M, Sebaa R, Alanazi M, Jacob M, Alodaib A, Alfares A, Abdel Rahman AM. Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease. Int J Mol Sci 2024;25:5720. [PMID: 38891907 PMCID: PMC11171634 DOI: 10.3390/ijms25115720] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2024] [Revised: 05/20/2024] [Accepted: 05/21/2024] [Indexed: 06/21/2024]  Open
20
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective. J Inherit Metab Dis 2024;47:417-430. [PMID: 37455357 DOI: 10.1002/jimd.12657] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/13/2023] [Revised: 07/08/2023] [Accepted: 07/11/2023] [Indexed: 07/18/2023]
21
Sabi EM, AlMogren M, Sebaa R, Sumaily KM, AlMalki R, Mujamammi AH, Abdel Rahman AM. Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns. Clin Chim Acta 2024;557:117861. [PMID: 38490341 DOI: 10.1016/j.cca.2024.117861] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2023] [Revised: 02/04/2024] [Accepted: 03/05/2024] [Indexed: 03/17/2024]
22
Su H, Zhang H, Wu J, Huang L, Zhang M, Xu W, Cao J, Liu W, Liu N, Jiang H, Gu X, Qian K. Fast Label-Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes. ADVANCED SCIENCE (WEINHEIM, BADEN-WURTTEMBERG, GERMANY) 2024;11:e2305701. [PMID: 38348590 PMCID: PMC11022714 DOI: 10.1002/advs.202305701] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/15/2023] [Revised: 01/25/2024] [Indexed: 04/18/2024]
23
Gropman AL, Uittenbogaard MN, Chiaramello AE. Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine. Neurotherapeutics 2024;21:e00311. [PMID: 38266483 PMCID: PMC10903101 DOI: 10.1016/j.neurot.2023.e00311] [Citation(s) in RCA: 4] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/12/2023] [Revised: 12/08/2023] [Accepted: 12/13/2023] [Indexed: 01/26/2024]  Open
24
Moritz L, Schumann A, Pohl M, Köttgen A, Hannibal L, Spiekerkoetter U. A systematic review of metabolomic findings in adult and pediatric renal disease. Clin Biochem 2024;123:110703. [PMID: 38097032 DOI: 10.1016/j.clinbiochem.2023.110703] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2023] [Revised: 12/03/2023] [Accepted: 12/07/2023] [Indexed: 12/29/2023]
25
Wurth R, Turgeon C, Stander Z, Oglesbee D. An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. Mol Genet Metab 2024;141:108115. [PMID: 38181458 PMCID: PMC10843816 DOI: 10.1016/j.ymgme.2023.108115] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/10/2023] [Revised: 11/19/2023] [Accepted: 12/12/2023] [Indexed: 01/07/2024]
26
Batagov A, Dalan R, Wu A, Lai W, Tan CS, Eisenhaber F. Generalized metabolic flux analysis framework provides mechanism-based predictions of ophthalmic complications in type 2 diabetes patients. Health Inf Sci Syst 2023;11:18. [PMID: 37008895 PMCID: PMC10060506 DOI: 10.1007/s13755-023-00218-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/08/2022] [Accepted: 02/19/2023] [Indexed: 03/31/2023]  Open
27
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases. Front Mol Biosci 2023;10:1283083. [PMID: 38028537 PMCID: PMC10657655 DOI: 10.3389/fmolb.2023.1283083] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/25/2023] [Accepted: 10/20/2023] [Indexed: 12/01/2023]  Open
28
Kuhara T, Tetsuo M, Ohse M, Shirakawa T, Nakashima Y, Yoshiura K, Tanaka N, Taya T. Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics. IJU Case Rep 2023;6:436-439. [PMID: 37928284 PMCID: PMC10622199 DOI: 10.1002/iju5.12642] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2023] [Accepted: 09/06/2023] [Indexed: 11/07/2023]  Open
29
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F. CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders. J Inherit Metab Dis 2023;46:1029-1042. [PMID: 37718653 DOI: 10.1002/jimd.12681] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/08/2023] [Revised: 09/12/2023] [Accepted: 09/15/2023] [Indexed: 09/19/2023]
30
Hoei-Hansen CE, Weber L, Johansen M, Fabricius R, Hansen JK, Viuff ACF, Rønde G, Hahn GH, Østergaard E, Duno M, Larsen VA, Madsen CG, Røhder K, Elvrum AKG, Laugesen B, Ganz M, Madsen KS, Willerslev-Olsen M, Debes NM, Christensen J, Christensen R, Rackauskaite G. Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention. BMC Pediatr 2023;23:544. [PMID: 37899466 PMCID: PMC10614332 DOI: 10.1186/s12887-023-04312-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/31/2023] [Accepted: 09/14/2023] [Indexed: 10/31/2023]  Open
31
Piskláková B, Friedecká J, Ivanovová E, Hlídková E, Bekárek V, Prídavok M, Kvasnička A, Adam T, Friedecký D. Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine. Clin Chem Lab Med 2023;61:2017-2027. [PMID: 37207286 DOI: 10.1515/cclm-2023-0084] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/27/2023] [Accepted: 05/10/2023] [Indexed: 05/21/2023]
32
Wohlgemuth R. Synthesis of Metabolites and Metabolite-like Compounds Using Biocatalytic Systems. Metabolites 2023;13:1097. [PMID: 37887422 PMCID: PMC10608848 DOI: 10.3390/metabo13101097] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2023] [Revised: 10/13/2023] [Accepted: 10/15/2023] [Indexed: 10/28/2023]  Open
33
Ortigoza-Escobar JD. Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. Tremor Other Hyperkinet Mov (N Y) 2023;13:36. [PMID: 37810989 PMCID: PMC10558026 DOI: 10.5334/tohm.801] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2023] [Accepted: 09/27/2023] [Indexed: 10/10/2023]  Open
34
Smirnov D, Konstantinovskiy N, Prokisch H. Integrative omics approaches to advance rare disease diagnostics. J Inherit Metab Dis 2023;46:824-838. [PMID: 37553850 DOI: 10.1002/jimd.12663] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/13/2023] [Revised: 07/26/2023] [Accepted: 07/27/2023] [Indexed: 08/10/2023]
35
Pinto WBVDR, Oliveira ASB, Carvalho AADS, Akman HO, de Souza PVS. Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders. Front Neurol 2023;14:1255513. [PMID: 37560451 PMCID: PMC10408293 DOI: 10.3389/fneur.2023.1255513] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2023] [Accepted: 07/14/2023] [Indexed: 08/11/2023]  Open
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Kadıoğlu Yılmaz B, Akgül AH. Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023). CHILDREN (BASEL, SWITZERLAND) 2023;10:1205. [PMID: 37508702 PMCID: PMC10378490 DOI: 10.3390/children10071205] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/28/2023] [Revised: 07/09/2023] [Accepted: 07/10/2023] [Indexed: 07/30/2023]
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Sebaa R, AlMalki RH, Alseraty W, Abdel Rahman AM. A Distinctive Metabolomics Profile and Potential Biomarkers for Very Long Acylcarnitine Dehydrogenase Deficiency (VLCADD) Diagnosis in Newborns. Metabolites 2023;13:725. [PMID: 37367883 DOI: 10.3390/metabo13060725] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2023] [Revised: 05/31/2023] [Accepted: 06/01/2023] [Indexed: 06/28/2023]  Open
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Sebaa R, AlMogren M, Alseraty W, Abdel Rahman AM. Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots. Int J Mol Sci 2023;24:ijms24119657. [PMID: 37298607 DOI: 10.3390/ijms24119657] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/08/2023] [Revised: 05/02/2023] [Accepted: 05/16/2023] [Indexed: 06/12/2023]  Open
39
Dai HD, Qiu F, Jackson K, Fruttiger M, Rizzo WB. Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways. Metabolites 2023;13:682. [PMID: 37367841 DOI: 10.3390/metabo13060682] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2023] [Revised: 05/13/2023] [Accepted: 05/16/2023] [Indexed: 06/28/2023]  Open
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Amer B, Deshpande RR, Bird SS. Simultaneous Quantitation and Discovery (SQUAD) Analysis: Combining the Best of Targeted and Untargeted Mass Spectrometry-Based Metabolomics. Metabolites 2023;13:metabo13050648. [PMID: 37233689 DOI: 10.3390/metabo13050648] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2023] [Revised: 04/27/2023] [Accepted: 05/05/2023] [Indexed: 05/27/2023]  Open
41
Hoogstraten CA, Lyon JJ, Smeitink JAM, Russel FGM, Schirris TJJ. Time to Change: A Systems Pharmacology Approach to Disentangle Mechanisms of Drug-Induced Mitochondrial Toxicity. Pharmacol Rev 2023;75:463-486. [PMID: 36627212 DOI: 10.1124/pharmrev.122.000568] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/10/2022] [Revised: 09/30/2022] [Accepted: 11/21/2022] [Indexed: 01/11/2023]  Open
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Slenter DN, Hemel IMGM, Evelo CT, Bierau J, Willighagen EL, Steinbusch LKM. Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations. Orphanet J Rare Dis 2023;18:95. [PMID: 37101200 PMCID: PMC10131334 DOI: 10.1186/s13023-023-02683-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/01/2022] [Accepted: 04/02/2023] [Indexed: 04/28/2023]  Open
43
Zou YG, Wang H, Li WW, Dai DL. Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders. World J Gastroenterol 2023;29:2114-2126. [PMID: 37122598 PMCID: PMC10130973 DOI: 10.3748/wjg.v29.i14.2114] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/23/2022] [Revised: 01/09/2023] [Accepted: 03/21/2023] [Indexed: 04/13/2023]  Open
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de Moraes MBM, de Souza HMR, de Oliveira MLC, Peake RWA, Scalco FB, Garrett R. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease. Metabolomics 2023;19:29. [PMID: 36988742 DOI: 10.1007/s11306-023-01989-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/07/2022] [Accepted: 03/05/2023] [Indexed: 03/30/2023]
45
Cossu M, Pintus R, Zaffanello M, Mussap M, Serra F, Marcialis MA, Fanos V. Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives. Metabolites 2023;13:metabo13030447. [PMID: 36984887 PMCID: PMC10058105 DOI: 10.3390/metabo13030447] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2023] [Revised: 03/14/2023] [Accepted: 03/15/2023] [Indexed: 03/30/2023]  Open
46
Stoltze UK, Hagen CM, van Overeem Hansen T, Byrjalsen A, Gerdes AM, Yakimov V, Rasmussen S, Bækvad-Hansen M, Hougaard DM, Schmiegelow K, Hjalgrim H, Wadt K, Bybjerg-Grauholm J. Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants. Genome Med 2023;15:17. [PMID: 36918911 PMCID: PMC10013285 DOI: 10.1186/s13073-023-01167-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/12/2022] [Accepted: 02/28/2023] [Indexed: 03/16/2023]  Open
47
Fu J, Zhu F, Xu CJ, Li Y. Metabolomics meets systems immunology. EMBO Rep 2023;24:e55747. [PMID: 36916532 PMCID: PMC10074123 DOI: 10.15252/embr.202255747] [Citation(s) in RCA: 9] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2022] [Revised: 12/24/2022] [Accepted: 02/24/2023] [Indexed: 03/16/2023]  Open
48
van Outersterp R, Oosterhout J, Gebhardt CR, Berden G, Engelke UFH, Wevers RA, Cuyckens F, Oomens J, Martens J. Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy. Anal Chem 2023;95:3406-3413. [PMID: 36735826 PMCID: PMC9933049 DOI: 10.1021/acs.analchem.2c04904] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
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Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data. Metabolites 2023;13:metabo13010097. [PMID: 36677022 PMCID: PMC9863797 DOI: 10.3390/metabo13010097] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/04/2022] [Revised: 12/19/2022] [Accepted: 01/03/2023] [Indexed: 01/11/2023]  Open
50
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests. Genet Med 2023;25:125-134. [PMID: 36350326 DOI: 10.1016/j.gim.2022.10.002] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2022] [Revised: 10/04/2022] [Accepted: 10/05/2022] [Indexed: 11/11/2022]  Open
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