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112 resultaten

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R

Clinical chemistry and laboratory medicine, 2024 Mar 11

doi: 10.1515/cclm-2023-1291

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Liepina L, Smith DEC, Huidekoper H, Zeidler S, Wamelink M, de Wit MC, Wilke M, Ruijter G, Bierau J, Blom HJ

JIMD reports, 2024 Mar

doi: 10.1002/jmd2.12409

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.

Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME

European journal of neurology, 2024 Feb 20

doi: 10.1111/ene.16223

Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report.

Chorley AJ, Terkivatan T, de Jonge J, Polak WG, Tran KTC, Unkhoff C, den Hoed CM, Wagenmakers MAEM, Ijzermans JNM, Minnee RC, Boehnert MU

Translational gastroenterology and hepatology, 2024

doi: 10.21037/tgh-23-55

Social cognition, emotion-regulation and social competence in classical galactosemia patients without intellectual disability.

Hermans ME, Geurtsen GJ, Hollak CEM, Janssen MCH, Langendonk JG, Merckelbach VLV, Oussoren E, Oostrom KJ, Bosch AM

Acta neuropsychiatrica, 2024 Jan 05

doi: 10.1017/neu.2023.61

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM

Journal of inherited metabolic disease, 2023 Dec 09

doi: 10.1002/jimd.12695

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Veldman A, Kiewiet MBG, Westra D, Bosch AM, Brands MMG, de Coo RIFM, Derks TGJ, Fuchs SA, van den Hout JMP, Huidekoper HH, Kluijtmans LAJ, Koop K, Lubout CMA, Mulder MF, Panis B, Rubio-Gozalbo ME, de Sain-van der Velden MG, Schaefers J, Schreuder AB, Visser G, Wevers RA, Wijburg FA, Heiner-Fokkema MR, van Spronsen FJ

International journal of neonatal screening, 2023 Oct 11

doi: 10.3390/ijns9040056

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.

de Bruyn DP, Bongaerts M, Bonte R, Vaarwater J, Meester-Smoor MA, Verdijk RM, Paridaens D, Naus NC, de Klein A, Ruijter GJG, Kiliç E, Brosens E,

International journal of molecular sciences, 2023 Mar 07

doi: 10.3390/ijms24065077

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease".

Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME

Journal of inherited metabolic disease, 2023 Mar 26

doi: 10.1002/jimd.12606

Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.

Bongaerts M, Kulkarni P, Zammit A, Bonte R, Kluijtmans LAJ, Blom HJ, Engelke UFH, Tax DMJ, Ruijter GJG, Reinders MJT

Metabolites, 2023 Jan 07

doi: 10.3390/metabo13010097

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ

American journal of human genetics, 2023 Jan 17

doi: 10.1016/j.ajhg.2022.12.015

Isolated neurological presentations of mevalonate kinase deficiency.

Hoytema van Konijnenburg EMM, Oussoren E, Frenkel J, van Hasselt PM

JIMD reports, 2023 Jan

doi: 10.1002/jmd2.12348