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Items: 1 to 50 of 97

1.

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. 2018 Dec 27. doi: 10.1002/jimd.12008. [Epub ahead of print]

PMID:
30723938
2.

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 Jan 21. doi: 10.1093/brain/awy346. [Epub ahead of print]

PMID:
30668673
3.

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP.

Biochim Biophys Acta Mol Basis Dis. 2019 Jan 15. pii: S0925-4439(19)30013-4. doi: 10.1016/j.bbadis.2019.01.013. [Epub ahead of print]

4.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ.

JCI Insight. 2018 Dec 20;3(24). pii: 122373. doi: 10.1172/jci.insight.122373. [Epub ahead of print]

5.

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

van Karnebeek CDM, Sayson B, Lee JJY, Tseng LA, Blau N, Horvath GA, Ferreira CR.

Front Neurol. 2018 Dec 3;9:1016. doi: 10.3389/fneur.2018.01016. eCollection 2018. Review.

6.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study.

Genet Med. 2018 Dec 13. doi: 10.1038/s41436-018-0376-y. [Epub ahead of print]

PMID:
30542205
7.

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Lee JJY, van Karnebeek CDM, Wasserman WW.

J Am Med Inform Assoc. 2019 Feb 1;26(2):124-133. doi: 10.1093/jamia/ocy153.

8.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

PMID:
30388404
9.

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ.

Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Review.

10.

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
11.

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N.

Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8.

12.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.

Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.

PMID:
29852244
13.

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ.

Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7.

PMID:
29789193
14.

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

Graham E, Lee J, Price M, Tarailo-Graovac M, Matthews A, Engelke U, Tang J, Kluijtmans LAJ, Wevers RA, Wasserman WW, van Karnebeek CDM, Mostafavi S.

J Inherit Metab Dis. 2018 May;41(3):435-445. doi: 10.1007/s10545-018-0139-6. Epub 2018 May 2.

15.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM.

Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10.

PMID:
29691939
16.

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.

Honey CM, Malhotra AK, Tarailo-Graovac M, van Karnebeek CDM, Horvath G, Sulistyanto A.

J Child Neurol. 2018 May;33(6):413-416. doi: 10.1177/0883073818756134.

PMID:
29661126
17.

Please Test My Child for a Cancer Gene, but Don't Tell Her.

Bester J, Sabatello M, van Karnebeek CDM, Lantos JD.

Pediatrics. 2018 Apr;141(4). pii: e20172238. doi: 10.1542/peds.2017-2238. Epub 2018 Mar 13.

18.

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre.

van Karnebeek CDM, Dunbar M, Egri C, Sayson B, Milea J, Stockler-Ipsiroglu S, Huh L, Connolly MB, Horvath GA.

Can J Neurol Sci. 2018 Mar;45(2):206-213. doi: 10.1017/cjn.2017.271.

PMID:
29506600
19.

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA.

J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16.

20.

Evaluation of the Child With Developmental Impairments.

van Karnebeek CDM.

Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):228-247. doi: 10.1212/CON.0000000000000564. Review.

PMID:
29432245
21.

From rodent heart to inborn errors of human metabolism.

Sass JO, Kalkan Uçar S, van Karnebeek CDM.

Mol Genet Metab. 2018 Mar;123(3):287-288. doi: 10.1016/j.ymgme.2018.02.001. Epub 2018 Feb 5. No abstract available.

PMID:
29429868
22.

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.

23.

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

Lee JJY, Gottlieb MM, Lever J, Jones SJM, Blau N, van Karnebeek CDM, Wasserman WW.

J Inherit Metab Dis. 2018 May;41(3):555-562. doi: 10.1007/s10545-017-0125-4. Epub 2018 Jan 16.

24.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

25.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.

J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.

PMID:
29246092
26.

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. No abstract available.

27.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.

Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23.

28.

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS.

Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27.

PMID:
28787087
29.

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD.

Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.

PMID:
28778789
30.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Review.

31.

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N.

Genet Med. 2018 Jan;20(1):151-158. doi: 10.1038/gim.2017.108. Epub 2017 Jul 20.

32.

Molecular identification in metabolomics using infrared ion spectroscopy.

Martens J, Berden G, van Outersterp RE, Kluijtmans LAJ, Engelke UF, van Karnebeek CDM, Wevers RA, Oomens J.

Sci Rep. 2017 Jun 13;7(1):3363. doi: 10.1038/s41598-017-03387-4.

33.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
34.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Zahir FR, Mwenifumbo JC, Chun HE, Lim EL, Van Karnebeek CDM, Couse M, Mungall KL, Lee L, Makela N, Armstrong L, Boerkoel CF, Langlois SL, McGillivray BM, Jones SJM, Friedman JM, Marra MA.

BMC Genomics. 2017 May 24;18(1):403. doi: 10.1186/s12864-017-3671-0.

35.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.

Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec.

36.

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M, Zhu JYA, Matthews A, van Karnebeek CDM, Wasserman WW.

Genet Med. 2017 Dec;19(12):1300-1308. doi: 10.1038/gim.2017.50. Epub 2017 May 4.

37.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
38.

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Tarailo-Graovac M, Wasserman WW, Van Karnebeek CD.

Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20. No abstract available.

PMID:
28277145
39.

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM.

Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6.

PMID:
28216384
40.

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD.

Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.

PMID:
28211985
41.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.

Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.

42.

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.

Pena IA, MacKenzie A, Van Karnebeek CDM.

Expert Rev Endocrinol Metab. 2017 Jan;12(1):5-20. doi: 10.1080/17446651.2017.1273107. Epub 2016 Dec 30.

PMID:
30058881
43.

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium, McFarland R, Vanderver A.

Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13.

PMID:
27843092
44.

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

van Karnebeek CD, Bowden K, Berry-Kravis E.

Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26. Review.

PMID:
27697313
45.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD.

Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22.

PMID:
27477828
46.

GLUT1 deficiency: progress in unraveling its genetic basis.

Van Karnebeek CD.

Dev Med Child Neurol. 2016 Dec;58(12):1210-1211. doi: 10.1111/dmcn.13220. Epub 2016 Jul 29. No abstract available.

47.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. Erratum in: JIMD Rep. 2017;33:111.

48.

Episodic ataxia associated with a de novo SCN2A mutation.

Leach EL, van Karnebeek CD, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT.

Eur J Paediatr Neurol. 2016 Sep;20(5):772-6. doi: 10.1016/j.ejpn.2016.05.020. Epub 2016 Jun 14.

PMID:
27328862
49.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

50.

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

Sinclair GB, van Karnebeek CD, Ester M, Boyd F, Nelson T, Stockler-Ipsiroglu S, Vallance H.

Mol Genet Metab. 2016 Jul;118(3):173-7. doi: 10.1016/j.ymgme.2016.05.002. Epub 2016 May 7.

PMID:
27233226

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