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Items: 1 to 50 of 270

1.

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A.

Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7.

2.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
3.

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.

Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, Leavis HL, Boelens JJ, Lindemans CA, Bloem AC, van de Corput L, van Montfrans J, Nierkens S, van Gijn ME, Geerke DP, Waterham HR, Koenderman L, Boes M.

Clin Immunol. 2019 Aug 2:108248. doi: 10.1016/j.clim.2019.108248. [Epub ahead of print] No abstract available.

PMID:
31382036
4.

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose.

Carrier DJ, van Roermund CWT, Schaedler TA, Rong HL, IJlst L, Wanders RJA, Baldwin SA, Waterham HR, Theodoulou FL, Baker A.

Sci Rep. 2019 Jul 19;9(1):10502. doi: 10.1038/s41598-019-46685-9.

5.

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Berendse K, Boek M, Gijbels M, Van der Wel NN, Klouwer FC, van den Bergh-Weerman MA, Shinde AB, Ofman R, Poll-The BT, Houten SM, Baes M, Wanders RJA, Waterham HR.

Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2774-2787. doi: 10.1016/j.bbadis.2019.06.013. Epub 2019 Jun 15.

6.

Fluorescent tools to analyse peroxisome-ER interactions in mammalian cells.

Bishop A, Kamoshita M, Passmore JB, Hacker C, Schrader TA, Waterham HR, Costello JL, Schrader M.

Contact (Thousand Oaks). 2019 Jun 5;2. doi: 10.1177/2515256419848641. Epub 2019 May 15.

7.

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.

Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3.

8.

Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.

Lismont C, Koster J, Provost S, Baes M, Van Veldhoven PP, Waterham HR, Fransen M.

Biochim Biophys Acta Biomembr. 2019 Oct 1;1861(10):182991. doi: 10.1016/j.bbamem.2019.05.013. Epub 2019 May 24.

PMID:
31129117
9.

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ.

J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16.

PMID:
31012112
10.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
11.

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.

Herzog K, IJlst L, van Cruchten AG, van Roermund CWT, Kulik W, Wanders RJA, Waterham HR.

Metabolites. 2019 Mar 5;9(3). pii: E45. doi: 10.3390/metabo9030045.

12.

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Klouwer FCC, Koot BGP, Berendse K, Kemper EM, Ferdinandusse S, Koelfat KVK, Lenicek M, Vaz FM, Engelen M, Jansen PLM, Wanders RJA, Waterham HR, Schaap FG, Poll-The BT.

J Inherit Metab Dis. 2019 Mar;42(2):303-312. doi: 10.1002/jimd.12042. Epub 2019 Feb 21.

PMID:
30793331
13.

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.

PMID:
30761551
14.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037.

PMID:
30740737
15.

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

Wanders RJA, Vaz FM, Ferdinandusse S, van Kuilenburg ABP, Kemp S, van Karnebeek CD, Waterham HR, Houtkooper RH.

J Inherit Metab Dis. 2019 Mar;42(2):197-208. doi: 10.1002/jimd.12008. Epub 2019 Feb 5. Review.

PMID:
30723938
16.

Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A".

Chinopoulos C, Wevers RA, Waterham HR, Zafeiriou D.

Mol Genet Metab Rep. 2018 Dec 13;18:10. doi: 10.1016/j.ymgmr.2018.12.002. eCollection 2019 Mar. No abstract available.

17.

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.

Violante S, Achetib N, van Roermund CWT, Hagen J, Dodatko T, Vaz FM, Waterham HR, Chen H, Baes M, Yu C, Argmann CA, Houten SM.

FASEB J. 2019 Mar;33(3):4355-4364. doi: 10.1096/fj.201801498R. Epub 2018 Dec 12.

PMID:
30540494
18.

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D.

Mol Genet Metab. 2019 Jan;126(1):43-52. doi: 10.1016/j.ymgme.2018.11.009. Epub 2018 Nov 16.

PMID:
30470562
19.

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Wanders RJA, Waterham HR, Ferdinandusse S.

Subcell Biochem. 2018;89:345-365. doi: 10.1007/978-981-13-2233-4_15. Review.

PMID:
30378031
20.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J.

Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.

21.

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

Shai N, Yifrach E, van Roermund CWT, Cohen N, Bibi C, IJlst L, Cavellini L, Meurisse J, Schuster R, Zada L, Mari MC, Reggiori FM, Hughes AL, Escobar-Henriques M, Cohen MM, Waterham HR, Wanders RJA, Schuldiner M, Zalckvar E.

Nat Commun. 2018 May 2;9(1):1761. doi: 10.1038/s41467-018-03957-8.

22.

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD.

Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25.

23.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

24.

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Ferdinandusse S, Denis S, van Roermund CWT, Preece MA, Koster J, Ebberink MS, Waterham HR, Wanders RJA.

Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):952-958. doi: 10.1016/j.bbadis.2017.12.032. Epub 2017 Dec 26.

25.

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR.

Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007.

26.

Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

Herzog K, Pras-Raves ML, Ferdinandusse S, Vervaart MAT, Luyf ACM, van Kampen AHC, Wanders RJA, Waterham HR, Vaz FM.

J Inherit Metab Dis. 2018 May;41(3):489-498. doi: 10.1007/s10545-017-0114-7. Epub 2017 Dec 5.

27.

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

Klouwer FCC, Braverman NE, Verkade HJ, Berendse K, Waterham HR, Wanders RJA, Poll-The BT, Koot BGP.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):e57. doi: 10.1097/MPG.0000000000001763. No abstract available.

PMID:
28953533
28.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT.

Clin Genet. 2018 Mar;93(3):613-621. doi: 10.1111/cge.13130. Epub 2017 Dec 1.

PMID:
28857144
29.

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.

Herzog K, Pras-Raves ML, Ferdinandusse S, Vervaart MAT, Luyf ACM, van Kampen AHC, Wanders RJA, Waterham HR, Vaz FM.

J Inherit Metab Dis. 2018 May;41(3):479-487. doi: 10.1007/s10545-017-0076-9. Epub 2017 Aug 28.

30.

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding.

Bleeker JC, Visser G, Wijburg FA, Ferdinandusse S, Waterham HR, Nikkels PGJ.

Pediatr Dev Pathol. 2017 Jul-Aug;20(4):269-276. doi: 10.1177/1093526617691708. Epub 2017 Feb 6.

PMID:
28727970
31.

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Klouwer FCC, Ferdinandusse S, van Lenthe H, Kulik W, Wanders RJA, Poll-The BT, Waterham HR, Vaz FM.

J Inherit Metab Dis. 2017 Nov;40(6):875-881. doi: 10.1007/s10545-017-0064-0. Epub 2017 Jul 4.

PMID:
28677031
32.

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K.

Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.

PMID:
28673549
33.

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Herzog K, van Lenthe H, Wanders RJA, Vaz FM, Waterham HR, Ferdinandusse S.

Mol Genet Metab. 2017 Jul;121(3):279-282. doi: 10.1016/j.ymgme.2017.05.003. Epub 2017 May 6.

PMID:
28566232
34.

Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.

Dorninger F, Herbst R, Kravic B, Camurdanoglu BZ, Macinkovic I, Zeitler G, Forss-Petter S, Strack S, Khan MM, Waterham HR, Rudolf R, Hashemolhosseini S, Berger J.

J Neurochem. 2017 Dec;143(5):569-583. doi: 10.1111/jnc.14082. Epub 2017 Sep 25.

35.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS.

Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152.

36.

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Wanders RJ, Klouwer FC, Ferdinandusse S, Waterham HR, Poll-Thé BT.

Methods Mol Biol. 2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30. Review.

PMID:
28409475
37.

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies.

Koster J, Waterham HR.

Methods Mol Biol. 2017;1595:63-67. doi: 10.1007/978-1-4939-6937-1_7.

PMID:
28409452
38.

NTCP deficiency and persistently raised bile salts: an adult case.

Van Herpe F, Waterham HR, Adams CJ, Mannens M, Bikker H, Vaz FM, Cassiman D.

J Inherit Metab Dis. 2017 May;40(3):313-315. doi: 10.1007/s10545-017-0031-9. Epub 2017 Mar 10. No abstract available.

PMID:
28283843
39.

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Klouwer FC, Koster J, Ferdinandusse S, Waterham HR.

Histochem Cell Biol. 2017 Apr;147(4):537-541. doi: 10.1007/s00418-016-1532-6. Epub 2016 Dec 24.

40.

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR.

J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31.

PMID:
27799409
41.

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR.

JIMD Rep. 2017;34:71-75. doi: 10.1007/8904_2016_10. Epub 2016 Aug 25.

42.

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.

Stepien KM, Wierzbicki AS, Poll-The BT, Waterham HR, Hendriksz CJ.

JIMD Rep. 2017;33:49-53. doi: 10.1007/8904_2016_569. Epub 2016 Aug 13.

43.

Cholic acid therapy in Zellweger spectrum disorders.

Berendse K, Klouwer FC, Koot BG, Kemper EM, Ferdinandusse S, Koelfat KV, Lenicek M, Schaap FG, Waterham HR, Vaz FM, Engelen M, Jansen PL, Wanders RJ, Poll-The BT.

J Inherit Metab Dis. 2016 Nov;39(6):859-868. Epub 2016 Jul 28.

44.

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.

Herzog K, Pras-Raves ML, Vervaart MA, Luyf AC, van Kampen AH, Wanders RJ, Waterham HR, Vaz FM.

J Lipid Res. 2016 Aug;57(8):1447-54. doi: 10.1194/jlr.M067470. Epub 2016 Jun 9.

45.

The Peroxisomal NAD Carrier from Arabidopsis Imports NAD in Exchange with AMP.

van Roermund CW, Schroers MG, Wiese J, Facchinelli F, Kurz S, Wilkinson S, Charton L, Wanders RJ, Waterham HR, Weber AP, Link N.

Plant Physiol. 2016 Jul;171(3):2127-39. doi: 10.1104/pp.16.00540. Epub 2016 May 2.

46.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT.

Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Review.

PMID:
27089543
47.

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Witters P, Régal L, Waterham HR, De Meirleir L, Wanders RJ, Morava E.

Am J Med Genet A. 2016 Jun;170(6):1642-6. doi: 10.1002/ajmg.a.37628. Epub 2016 Mar 23. No abstract available.

PMID:
27007981
48.

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

Messer L, Alsaleh G, Georgel P, Carapito R, Waterham HR, Dali-Youcef N, Bahram S, Sibilia J.

RMD Open. 2016 Mar 7;2(1):e000196. doi: 10.1136/rmdopen-2015-000196. eCollection 2016.

49.

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Ferdinandusse S, Ebberink MS, Vaz FM, Waterham HR, Wanders RJ.

J Inherit Metab Dis. 2016 Jul;39(4):531-43. doi: 10.1007/s10545-016-9922-4. Epub 2016 Mar 4. Review.

50.

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum.

Wanders RJ, Waterham HR, Ferdinandusse S.

Front Cell Dev Biol. 2016 Jan 28;3:83. doi: 10.3389/fcell.2015.00083. eCollection 2015. Review.

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