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Items: 1 to 50 of 971

1.

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL.

J Inherit Metab Dis. 2020 Jan 18. doi: 10.1002/jimd.12217. [Epub ahead of print]

PMID:
31955429
2.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S.

Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.

3.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A.

J Appl Genet. 2020 Feb;61(1):87-91. doi: 10.1007/s13353-019-00523-w. Epub 2019 Oct 18.

PMID:
31628608
4.

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
5.

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.

6.

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ.

J Inherit Metab Dis. 2019 Sep;42(5):878-889. doi: 10.1002/jimd.12147. Epub 2019 Jul 17.

PMID:
31268564
7.

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.

8.

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.

9.

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
10.

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A.

Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17.

PMID:
31058414
11.

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
12.

Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.

Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las Fuentes L, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN.

J Inherit Metab Dis. 2019 May;42(3):480-493. doi: 10.1002/jimd.12094. Epub 2019 Apr 11.

PMID:
30924938
13.

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.

14.

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 Jul;47:298-308. doi: 10.1016/j.mito.2019.02.005. Epub 2019 Feb 22.

PMID:
30802674
15.

Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients.

Verly IRN, Leen R, Meinsma JR, Hooijer GKJ, Savci-Heijink CD, van Nes J, Broekmans M, Wanders RJA, van Kuilenburg ABP, Tytgat GAM.

Eur J Cancer. 2019 Apr;111:21-29. doi: 10.1016/j.ejca.2019.01.014. Epub 2019 Feb 22.

PMID:
30798085
16.

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
17.

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
18.

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
19.

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
20.

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
21.

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
22.

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
23.

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1.

24.

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.

25.

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.

26.

Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation.

Held NM, Kuipers EN, van Weeghel M, van Klinken JB, Denis SW, Lombès M, Wanders RJ, Vaz FM, Rensen PCN, Verhoeven AJ, Boon MR, Houtkooper RH.

Sci Rep. 2018 Jun 22;8(1):9562. doi: 10.1038/s41598-018-27875-3.

27.

Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.

Morita M, Matsumoto S, Sato A, Inoue K, Kostsin DG, Yamazaki K, Kawaguchi K, Shimozawa N, Kemp S, Wanders RJ, Kojima H, Okabe T, Imanaka T.

JIMD Rep. 2019;44:23-31. doi: 10.1007/8904_2018_118. Epub 2018 Jun 21.

28.

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.

29.

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.

30.

Increased cardiac fatty acid oxidation in a mouse model with decreased malonyl-CoA sensitivity of CPT1B.

van Weeghel M, Abdurrachim D, Nederlof R, Argmann CA, Houtkooper RH, Hagen J, Nabben M, Denis S, Ciapaite J, Kolwicz SC Jr, Lopaschuk GD, Auwerx J, Nicolay K, Des Rosiers C, Wanders RJ, Zuurbier CJ, Prompers JJ, Houten SM.

Cardiovasc Res. 2018 Aug 1;114(10):1324-1334. doi: 10.1093/cvr/cvy089.

PMID:
29635338
31.

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.

32.

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
33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.

Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FCC, Dijkstra IME, Schielen PC, van Lenthe H, Wanders RJA, Vaz FM, Morrissey MA, Engelen M, Kemp S.

Mol Genet Metab. 2017 Dec;122(4):209-215. doi: 10.1016/j.ymgme.2017.10.012. Epub 2017 Oct 28.

PMID:
29089175
39.

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
40.

Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae.

Al-Saryi NA, Al-Hejjaj MY, van Roermund CWT, Hulmes GE, Ekal L, Payton C, Wanders RJA, Hettema EH.

Sci Rep. 2017 Sep 19;7(1):11868. doi: 10.1038/s41598-017-11942-2.

41.

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.

42.

AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configuration.

Adam AAA, van Wenum M, van der Mark VA, Jongejan A, Moerland PD, Houtkooper RH, Wanders RJA, Oude Elferink RP, Chamuleau RAFM, Hoekstra R.

Mitochondrion. 2018 Mar;39:30-42. doi: 10.1016/j.mito.2017.08.011. Epub 2017 Aug 24.

PMID:
28844938
43.

Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS.

Moedas MF, Adam AAA, Farelo MA, IJlst L, Chamuleau RAFM, Hoekstra R, Wanders RJA, Silva MFB.

Anal Biochem. 2017 Oct 15;535:47-55. doi: 10.1016/j.ab.2017.07.025. Epub 2017 Jul 27.

PMID:
28757091
44.

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
45.

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
46.

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
47.

Identification of enzymes involved in oxidation of phenylbutyrate.

Palir N, Ruiter JPN, Wanders RJA, Houtkooper RH.

J Lipid Res. 2017 May;58(5):955-961. doi: 10.1194/jlr.M075317. Epub 2017 Mar 9.

48.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.

Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Review.

49.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.

Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.

50.

Ketones and inborn errors of metabolism: old friends revisited.

Wüst RC, Visser G, Wanders RJ, Houtkooper RH.

J Inherit Metab Dis. 2017 Jan;40(1):3-4. doi: 10.1007/s10545-016-9997-y. No abstract available.

PMID:
27830424

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