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Items: 1 to 50 of 202

1.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

2.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC.

J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036.

PMID:
30740741
3.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
4.

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use-limiting visual field defects.

Walters DC, Jansen EEW, Ainslie GR, Salomons GS, Brown MN, Schmidt MA, Roullet JB, Gibson KM.

Pharmacol Res Perspect. 2019 Jan 7;7(1):e00456. doi: 10.1002/prp2.456. eCollection 2019 Feb.

5.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.

J Inherit Metab Dis. 2018 Jul 24. doi: 10.1007/s10545-018-0219-7. [Epub ahead of print]

PMID:
30043187
6.

IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.

Gao Y, de Wit M, Struys EA, van der Linde HCZ, Salomons GS, Lamfers MLM, Willemsen R, Sillevis Smitt PAE, French PJ.

PLoS One. 2018 Jun 28;13(6):e0199737. doi: 10.1371/journal.pone.0199737. eCollection 2018.

7.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients.

Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp MJE, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC.

J Inherit Metab Dis. 2018 May 2. doi: 10.1007/s10545-018-0184-1. [Epub ahead of print]

PMID:
29721915
8.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

von Renesse A, Morales-Gonzalez S, Gill E, Salomons GS, Stenzel W, Schuelke M.

JIMD Rep. 2019;43:27-35. doi: 10.1007/8904_2018_93. Epub 2018 Apr 14.

9.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.

10.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.

Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.

PMID:
29506905
11.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM.

Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13.

PMID:
29440775
12.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S.

Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12.

PMID:
29435807
13.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS.

J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13.

14.

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Hewson S, Brunga L, Ojeda MF, Imhof E, Patel J, Zak M, Donner EJ, Kobayashi J, Salomons GS, Mercimek-Andrews S.

Can J Neurol Sci. 2018 Jan;45(1):93-96. doi: 10.1017/cjn.2017.246. Epub 2017 Nov 16.

PMID:
29144225
15.

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Roullet JB, Gibson KM.

PLoS One. 2017 Oct 20;12(10):e0186919. doi: 10.1371/journal.pone.0186919. eCollection 2017.

16.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.

PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

17.

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG.

Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30.

18.

The acute effect of beta-guanidinopropionic acid versus creatine or placebo in healthy men (ABC-Trial): A randomized controlled first-in-human trial.

Karamat FA, Horjus DL, Haan YC, van der Woude L, Schaap MC, Oudman I, van Montfrans GA, Nieuwland R, Salomons GS, Clark JF, Brewster LM.

Br J Clin Pharmacol. 2017 Dec;83(12):2626-2635. doi: 10.1111/bcp.13390. Epub 2017 Sep 20.

19.

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.

Wernli C, Finochiaro S, Volken C, Andresen-Streichert H, Buettler A, Gygax D, Salomons GS, Jansen EE, Ainslie GR, Vogel KR, Gibson KM.

Mol Genet Metab Rep. 2016 Aug 17;11:81-89. doi: 10.1016/j.ymgmr.2016.07.009. eCollection 2017 Jun.

20.

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

Berends LM, Struys EA, Roos B, Holwerda U, Jansen EEW, Salomons GS, Wamelink MMC.

JIMD Rep. 2017;37:13-17. doi: 10.1007/8904_2017_4. Epub 2017 Feb 21.

21.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

22.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Weeke LC, Brilstra E, Braun KP, Zonneveld-Huijssoon E, Salomons GS, Koeleman BP, van Gassen KL, van Straaten HL, Craiu D, de Vries LS.

Eur J Paediatr Neurol. 2017 Mar;21(2):396-403. doi: 10.1016/j.ejpn.2016.11.002. Epub 2016 Nov 19.

PMID:
27913086
23.

Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

Attri SV, Singhi P, Wiwattanadittakul N, Goswami JN, Sankhyan N, Salomons GS, Roullett JB, Hodgeman R, Parviz M, Gibson KM, Pearl PL.

JIMD Rep. 2017;34:111-115. doi: 10.1007/8904_2016_14. Epub 2016 Nov 5.

24.

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Gibson KM.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):33-42. doi: 10.1016/j.bbadis.2016.10.009. Epub 2016 Oct 17.

25.

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM.

J Inherit Metab Dis. 2016 Nov;39(6):795-800. Epub 2016 Sep 29.

26.

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.

Wang F, Travins J, Lin Z, Si Y, Chen Y, Powe J, Murray S, Zhu D, Artin E, Gross S, Santiago S, Steadman M, Kernytsky A, Straley K, Lu C, Pop A, Struys EA, Jansen EE, Salomons GS, David MD, Quivoron C, Penard-Lacronique V, Regan KS, Liu W, Dang L, Yang H, Silverman L, Agresta S, Dorsch M, Biller S, Yen K, Cang Y, Su SM, Jin S.

J Inherit Metab Dis. 2016 Nov;39(6):807-820. Epub 2016 Jul 28.

27.

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Mierzewska H, Mierzewska-Schmidt M, Salomons GS, Dudzińska M, Szczepanik E.

Dev Period Med. 2016 Apr-Jun;20(2):110-7.

28.

Phenotyping GABA transaminase deficiency: a case description and literature review.

Louro P, Ramos L, Robalo C, Cancelinha C, Dinis A, Veiga R, Pina R, Rebelo O, Pop A, Diogo L, Salomons GS, Garcia P.

J Inherit Metab Dis. 2016 Sep;39(5):743-747. doi: 10.1007/s10545-016-9951-z. Epub 2016 Jul 4.

PMID:
27376954
29.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

van Rappard DF, Bugiani M, Boelens JJ, van der Steeg AF, Daams F, de Meij TG, van Doorn MM, van Hasselt PM, Gouma DJ, Verbeke JI, Hollak CE, van Hecke W, Salomons GS, van der Knaap MS, Wolf NI.

Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3.

PMID:
27261095
30.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK.

Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030.

31.

Frequent reconstitution of IDH2(R140Q) mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia.

Wiseman DH, Williams EL, Wilks DP, Sun Leong H, Somerville TD, Dennis MW, Struys EA, Bakkali A, Salomons GS, Somervaille TC.

Leukemia. 2016 Sep;30(9):1946-50. doi: 10.1038/leu.2016.93. Epub 2016 Apr 27. No abstract available.

32.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N.

J Dev Behav Pediatr. 2016 May;37(4):322-6. doi: 10.1097/DBP.0000000000000299.

33.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT.

Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar.

34.

Creatine Deficiency Syndromes.

Mercimek-Mahmutoglu S, Salomons GS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Jan 15 [updated 2015 Dec 10].

35.

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS.

Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987. Epub 2015 Nov 30.

PMID:
26619324
36.

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera IA, Leandro P, Blom HJ.

Hum Mol Genet. 2015 Dec 20;24(25):7339-48. doi: 10.1093/hmg/ddv431. Epub 2015 Oct 12.

PMID:
26464485
37.

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Mercimek-Mahmutoglu S, Pop A, Kanhai W, Fernandez Ojeda M, Holwerda U, Smith D, Loeber JG, Schielen PC, Salomons GS.

Gene. 2016 Jan 1;575(1):127-31. doi: 10.1016/j.gene.2015.08.045. Epub 2015 Aug 28.

PMID:
26319512
38.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL.

Neurology. 2015 Sep 8;85(10):861-5. doi: 10.1212/WNL.0000000000001906. Epub 2015 Aug 12.

39.

Recessive ITPA mutations cause an early infantile encephalopathy.

Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.

Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21.

PMID:
26224535
40.

Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Gibson KM.

Ann Clin Transl Neurol. 2015 Jun;2(6):699-706. doi: 10.1002/acn3.200. Epub 2015 Apr 17.

41.

Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy.

Wiseman DH, Struys EA, Wilks DP, Clark CI, Dennis MW, Jansen EE, Salomons GS, Somervaille TC.

Leukemia. 2015 Dec;29(12):2421-3. doi: 10.1038/leu.2015.151. Epub 2015 Jun 19. No abstract available.

PMID:
26088953
42.

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS, Mercimek-Mahmutoglu S.

Mol Genet Genomics. 2015 Dec;290(6):2163-71. doi: 10.1007/s00438-015-1067-x. Epub 2015 May 24.

PMID:
26003046
43.

Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines.

Suijker J, Oosting J, Koornneef A, Struys EA, Salomons GS, Schaap FG, Waaijer CJ, Wijers-Koster PM, Briaire-de Bruijn IH, Haazen L, Riester SM, Dudakovic A, Danen E, Cleton-Jansen AM, van Wijnen AJ, Bovée JV.

Oncotarget. 2015 May 20;6(14):12505-19.

44.

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S.

Gene. 2015 Jul 10;565(2):187-91. doi: 10.1016/j.gene.2015.04.011. Epub 2015 Apr 8.

PMID:
25861866
45.

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P.

Clin Chem. 2015 May;61(5):760-8. doi: 10.1373/clinchem.2014.235564. Epub 2015 Mar 10.

46.

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation.

van der Knaap MS, Salomons GS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2010 May 25 [updated 2015 Feb 12].

47.

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS.

J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3.

48.

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T.

Eur J Pediatr. 2014 Dec;173(12):1719-22. doi: 10.1007/s00431-014-2421-4. Epub 2014 Sep 20.

PMID:
25233985
49.

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P.

Hum Mutat. 2014 Oct;35(10):1195-202. doi: 10.1002/humu.22616. Epub 2014 Jul 31.

PMID:
25044645
50.

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Nota B, Ndika JD, van de Kamp JM, Kanhai WA, van Dooren SJ, van de Wiel MA, Pals G, Salomons GS.

Hum Mutat. 2014 Sep;35(9):1128-35. doi: 10.1002/humu.22609. Epub 2014 Jul 15.

PMID:
24962355

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