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Items: 1 to 20 of 335

1.

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 Jun 14. pii: S0925-4439(19)30212-1. doi: 10.1016/j.bbadis.2019.06.013. [Epub ahead of print]

2.

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 Jun 12. doi: 10.1002/humu.23839. [Epub ahead of print]

PMID:
31187905
3.

Corrigendum to "Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function" [Biochim. Biophys. Acta, Mol. Cell Biol. Lipids 1864/5(2019) 654-661].

Raja V, Salsaa M, Joshi AS, Li Y, van Roermund CWT, Saadat N, Lazcano P, Schmidtke M, Hüttemann M, Gupta SV, Wanders RJA, Greenberg ML.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Aug;1864(8):1183. doi: 10.1016/j.bbalip.2019.04.014. Epub 2019 May 4. No abstract available.

PMID:
31060928
4.

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
5.

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.

6.

Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions.

Adam AAA, van der Mark VA, Ruiter JPN, Wanders RJA, Oude Elferink RPJ, Chamuleau RAFM, Hoekstra R.

Mitochondrion. 2019 Feb 22. pii: S1567-7249(18)30241-1. doi: 10.1016/j.mito.2019.02.005. [Epub ahead of print]

PMID:
30802674
7.

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
8.

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
9.

Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.

Raja V, Salsaa M, Joshi AS, Li Y, van Roermund CWT, Saadat N, Lazcano P, Schmidtke M, Hüttemann M, Gupta SV, Wanders RJA, Greenberg ML.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 May;1864(5):654-661. doi: 10.1016/j.bbalip.2019.02.001. Epub 2019 Feb 5. Erratum in: Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Aug;1864(8):1183.

PMID:
30731133
10.

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
11.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
12.

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
13.

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
14.

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

van Weeghel M, Welling L, Treacy EP, Wanders RJA, Ferdinandusse S, Bosch AM.

Orphanet J Rare Dis. 2018 Aug 24;13(1):146. doi: 10.1186/s13023-018-0888-1.

15.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.

PMID:
30089828
16.

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH.

Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Review.

17.

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.

18.

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.

19.

Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.

Wanders RJA.

Mol Cell Probes. 2018 Aug;40:60-69. doi: 10.1016/j.mcp.2018.02.001. Epub 2018 Feb 10. Review.

PMID:
29438773
20.

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN.

Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Review.

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