Journal of Inherited Metabolic Disease, 0141-8955

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  1. 2020
  2. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

    Devon L. Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, Kristin D. Kernohan, Anik St-Denis, Nissan V. Baratang, Taila Hartley, Michael T. Geraghty, Julie Richer, Jacek Majewski, Eric Bareke, Andrea Guerin, Manuela Pendziwiat, Loren D.M. Pena, Hilde M.H. Braakman, Karen W. Gripp, Andrew C. Edmondson, Miao He, Rebecca C. Spillmann, Erik A. Eklund & 4 others, Allan Bayat, Hugh J. McMillan, Kym M. Boycott & Philippe M. Campeau, 2020 Nov, In : Journal of Inherited Metabolic Disease. 43, 6, p. 1321-1332 12 p.

    Research output: Contribution to journalArticle

  3. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

    Undiagnosed Diseases Network Undiagnosed Diseases Network, Bobby G Ng, Erik Eklund & Hudson H. Freeze, 2020 Nov, In : Journal of Inherited Metabolic Disease. 43, 6, p. 1333-1348 16 p.

    Research output: Contribution to journalArticle

  4. 2019
  5. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, Maraike A. Coenen, Hendriekje Eggink, Rodi Zutt, Maria E. Rubio-Gozalbo, Annet M. Bosch, Monique Williams, Terry G.J. Derks, Robin H.L. Lachmann, Martijn C.G.J. Brouwers, Mirian C.H. Janssen, Marina A. Tijssen & Tom J. de Koning, 2019 May 1, In : Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

    Research output: Contribution to journalArticle

  6. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

    Elizabeth Jennions, Carola Hedberg-Oldfors, Anna Karin Berglund, Gittan Kollberg, Carl Johan Törnhage, Erik A. Eklund, Anders Oldfors, Patrick Verloo, Arnaud V. Vanlander, Linda De Meirleir, Sara Seneca, Fredrik H. Sterky & Niklas Darin, 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 898-908

    Research output: Contribution to journalArticle

  7. 2018
  8. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

    Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M.A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen & Terry G.J. Derks, 2018 Dec, In : Journal of Inherited Metabolic Disease. 41, 6, p. 929-936

    Research output: Contribution to journalArticle

  9. 2017
  10. Amino acid synthesis deficiencies

    T. J. de Koning, 2017 Jul, In : Journal of Inherited Metabolic Disease. 40, 4, p. 609-620

    Research output: Contribution to journalReview article

  11. 2016
  12. Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

    Per Bengtson, Bobby G Ng, Jaak Jaeken, Gert Matthijs, Hudson H Freeze & Erik Eklund, 2016, In : Journal of Inherited Metabolic Disease. 39, 1, p. 107-114

    Research output: Contribution to journalArticle

  13. 2013
  14. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Maria Veiga-Da-Cunha, Nanda M. Verhoeven-Duif, Tom J. De Koning, Marinus Duran, Bert Dorland & Emile Van Schaftingen, 2013 Nov 1, In : Journal of Inherited Metabolic Disease. 36, 6, p. 961-966 6 p.

    Research output: Contribution to journalArticle

  15. An update on serine deficiency disorders

    S. N. Van Der Crabben, N. M. Verhoeven-Duif, E. H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger & T. J. De Koning, 2013 Jul 1, In : Journal of Inherited Metabolic Disease. 36, 4, p. 613-619 7 p.

    Research output: Contribution to journalArticle

  16. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

    Derek G. Burke, Ahad A. Rahim, Simon N. Waddington, Stefan Karlsson, Ida Berglin-Enquist, Kailash Bhatia, Atul Mehta, Ashok Vellodi & Simon Heales, 2013, In : Journal of Inherited Metabolic Disease. 36, 5, p. 869-872

    Research output: Contribution to journalArticle

  17. 2011
  18. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: A systematic review

    Marleen H. Van Der Linden, Moyo C. Kruyt, Ralph J.B. Sakkers, Tom J. De Koning, F. Cumhur Öner & René M. Castelein, 2011 Jun 1, In : Journal of Inherited Metabolic Disease. 34, 3, p. 657-669

    Research output: Contribution to journalReview article

  19. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

    L. Tabatabaie, L. W.J. Klomp, M. E. Rubio-Gozalbo, L. J.M. Spaapen, A. A.M. Haagen, L. Dorland & T. J. De Koning, 2011 Feb 1, In : Journal of Inherited Metabolic Disease. 34, 1, p. 181-184 4 p.

    Research output: Contribution to journalArticle

  20. Complex III staining in blue native polyacrylamide gels

    Joel Smet, Boel De Paepe, Sara Seneca, Willy Lissens, Heike Kotarsky, Linda De Meirleir, Vineta Fellman & Rudy Van Coster, 2011, In : Journal of Inherited Metabolic Disease. 34, 3, p. 741-747

    Research output: Contribution to journalArticle

  21. 2010
  22. Fatal cerebral edema associated with serine deficiency in CSF

    Irene M.L.W. Keularts, Piet L.J.M. Leroy, Estela M. Rubio-Gozalbo, Leo J.M. Spaapen, Biene Weber, Bert Dorland, Tom J. De Koning & Nanda M. Verhoeven-Duif, 2010 Dec, In : Journal of Inherited Metabolic Disease. 33, SUPPL. 3, p. 181-185

    Research output: Contribution to journalArticle

  23. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage

    Monique Albersen, Marjolein Bonthuis, Nicole M. De Roos, Dorine A.M. Van Den Hurk, Ems Carbasius Weber, Margriet M.W.B. Hendriks, Monique G.M. De Sain-Van Der Velden, Tom J. De Koning & Gepke Visser, 2010 Jan 1, In : Journal of Inherited Metabolic Disease. 33, SUPPL. 3

    Research output: Contribution to journalArticle

  24. 2009
  25. In response to van Spronsen et al

    F. J. van Spronsen, M. van Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. de Koning, M. E. Rubio-Gozalbo, M. de Vries & P. H. Verkerk, 2009 Aug, In : Journal of Inherited Metabolic Disease. 32, 4, p. 585-586

    Research output: Contribution to journalLetter

  26. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

    F. J. van Spronsen, M. Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. de Koning, M. Estela Rubio-Gozalbo, M. de Vries & P. H. Verkerk, 2009 Feb, In : Journal of Inherited Metabolic Disease. 32, 1, p. 27-31

    Research output: Contribution to journalArticle

  27. 2008
  28. Two patients with glutaric aciduria type I and infantile spasm

    A. Reims, D. Papadopoulou & Johan Lundgren, 2008, In : Journal of Inherited Metabolic Disease. 31, Supplement 1, p. 16-16

    Research output: Contribution to journalPublished meeting abstract

  29. 2007
  30. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.

    M. A. Benninga, M. Lilien, T. J. de Koning, M. Duran, F. G. Versteegh, R. Goldschmeding & B. T. Poll-The, 2007 Jan 1, In : Journal of Inherited Metabolic Disease. 30, 3, p. 402-403 2 p.

    Research output: Contribution to journalArticle

  31. 2006
  32. Treatment with amino acids in serine deficiency disorders

    T. J. de Koning, 2006 Apr 1, In : Journal of Inherited Metabolic Disease. 29, 2-3, p. 347-351 5 p.

    Research output: Contribution to journalArticle

  33. 2005
  34. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

    M. Hoeksma, M. van Rijn, P. H. Verkerk, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. J. de Koning, E. Rubio-Gozalbo, M. de Vries, P. J.J. Sauer & F. J. van Spronsen, 2005 Dec 1, In : Journal of Inherited Metabolic Disease. 28, 6, p. 845-854 10 p.

    Research output: Contribution to journalArticle

  35. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

    M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin & Guy T.N. Besley, 2005 Jan 1, In : Journal of Inherited Metabolic Disease. 28, 5, p. 673-679 7 p.

    Research output: Contribution to journalArticle

  36. 2004
  37. Glutathione synthetase deficiency associated with antenatal cerebral bleeding

    L. W. Br̈ggemann, F. Groenendaal, E. Ristoff, A. Larsson, M. Duran, J. A.C. van Lier, L. Dorland, R. Berger & T. J. de Koning, 2004 Jun 23, In : Journal of Inherited Metabolic Disease. 27, 2, p. 275-276 2 p.

    Research output: Contribution to journalArticle

  38. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

    Angelique B.C. Roeleveld-Versteegh, K. P.J. Braun, J. A.M. Smeitink, L. Dorland & T. J. de Koning, 2004 Jun 23, In : Journal of Inherited Metabolic Disease. 27, 2, p. 281-283 3 p.

    Research output: Contribution to journalArticle

  39. Energy expenditure in patients with propionic and methylmalonic acidaemias

    C. C. van Hagen, E. Carbasius Weber, Th A.M. van den Hurk, J. H. Oudshoorn, L. Dorland, R. Berger & T. de Koning, 2004 Apr 13, In : Journal of Inherited Metabolic Disease. 27, 1, p. 111-112 2 p.

    Research output: Contribution to journalArticle

  40. 2002
  41. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

    J. C.M. Baas, R. van de Laar, L. Dorland, M. Duran, R. Berger, B. T. Poll-The & T. J. de Koning, 2002 Dec 1, In : Journal of Inherited Metabolic Disease. 25, 8, p. 699-701 3 p.

    Research output: Contribution to journalArticle

  42. Glutaric aciduria type III: A distinctive non-disease?

    I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T. J. De Koning, P. Müller, E. Christensen, F. K. Trefz, G. F. Wündisch, W. Rascher & G. F. Hoffman, 2002 Oct 1, In : Journal of Inherited Metabolic Disease. 25, 6, p. 483-490 8 p.

    Research output: Contribution to journalArticle

  43. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken & B. T. Poll-The, 2002 Jul 9, In : Journal of Inherited Metabolic Disease. 25, 2, p. 119-125 7 p.

    Research output: Contribution to journalArticle

  44. 2001
  45. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

    L. J.M. Spaapen, J. A. Bakker, C. Velter, W. Loots, M. E. Rubio-Gonzalbo, P. P. Forget, L. Dorland, T. J. De Koning, B. T. Poll-The, H. K. Ploos Van Amstel, J. Bekhof, N. Blau & M. Duran, 2001 Aug 6, In : Journal of Inherited Metabolic Disease. 24, 3, p. 352-358 7 p.

    Research output: Contribution to journalArticle

  46. 2000
  47. Hyperketonaemia in glycerol kinase deficiency

    D. R. Sjarif, L. Dorland, W. Sperl, T. J. De Koning, F. A. Beemer, B. T. Poll-The & M. Duran, 2000 Nov 29, In : Journal of Inherited Metabolic Disease. 23, 7, p. 760-764 5 p.

    Research output: Contribution to journalArticle

  48. Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome

    B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis, M. Duran, T. J. De Koning, L. Dorland, M. M.J. De Barse, G. J. Romeijn, R. J.A. Wanders & H. R. Waterham, 2000 Jun 27, In : Journal of Inherited Metabolic Disease. 23, 4, p. 363-366 4 p.

    Research output: Contribution to journalArticle

  49. 1998
  50. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

    T. J. De Koning, M. Toet, L. Dorland, L. S. De Vries, I. E.T. Van Den Berg, M. Duran & B. T. Poll-The, 1998 Sep 28, In : Journal of Inherited Metabolic Disease. 21, 6, p. 681-682 2 p.

    Research output: Contribution to journalArticle

  51. Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?

    I. Kerckaert, T. J. De Koning, B. T. Poll-The & F. Roels, 1998 Jan 1, In : Journal of Inherited Metabolic Disease. 21, 3, p. 186-190 5 p.

    Research output: Contribution to journalArticle

  52. 1997
  53. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

    J. Jaeken, J. Artigas, R. Barone, A. Fiumara, T. J. De Koning, B. T. Poll-The, J. F. De Rijk-Van Andel, G. F. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M. A. Vilaseca, J. M. Saudubray, B. Schlüter, R. Wevers & E. Van Schaftingen, 1997 Sep 4, In : Journal of Inherited Metabolic Disease. 20, 3, p. 447-449 3 p.

    Research output: Contribution to journalArticle

  54. 1978
  55. Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism

    Alan Chester, A Lundblad, S Svensson & P-A Öckerman, 1978, In : Journal of Inherited Metabolic Disease. 1, 3, p. 119-121

    Research output: Contribution to journalArticle