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Items: 40


Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Almontashiri NAM, Berry GT, Majzoub J, Peake RWA.

Clin Chem. 2018 Dec;64(12):1785-1787. doi: 10.1373/clinchem.2018.293696. No abstract available.


Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI.

Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8.


Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA.

Clin Chem. 2018 Aug;64(8):1260-1262. doi: 10.1373/clinchem.2018.291146. No abstract available.


Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Berhe S, Heeney MM, Campagna DR, Thompson JF, White EJ, Ross T, Peake RWA, Hanrahan JD, Rodriguez V, Renaud DL, Patnaik MS, Chang E, Bottomley SS, Fleming MD.

Haematologica. 2018 Dec;103(12):e561-e563. doi: 10.3324/haematol.2018.199109. Epub 2018 Jul 13. No abstract available.


Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies.

Almontashiri NAM, Rodan LH, Peake RWA.

Clin Chem. 2018 May;64(5):870-872. doi: 10.1373/clinchem.2018.287292. No abstract available.


Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.

Peake RWA, Rodan LH.

Clin Chem. 2017 Nov;63(11):1771-1773. doi: 10.1373/clinchem.2017.279497. No abstract available.


A Case of Severe Neonatal Hyperammonemia.

Peake RWA, Neilan EG.

Clin Chem. 2017 Aug;63(8):1420-1422. doi: 10.1373/clinchem.2017.274209. No abstract available.


Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB.

JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20.


Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child.

Peake RWA, Rodan LH.

Clin Chem. 2017 Jun;63(6):1171-1173. doi: 10.1373/clinchem.2017.271643. No abstract available.


Dark Colored Urine in a 2-Year-Old Child.

Peake RW, Bodamer OA.

Clin Chem. 2017 Mar;63(3):786-788. doi: 10.1373/clinchem.2016.269910. No abstract available.


Newborn Screening for Lysosomal Storage Disorders.

Peake RW, Bodamer OA.

J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2. Review.


A Term Newborn with Respiratory Distress, Acidosis, and Hypoglycemia.

Peake RW, Kozakewich HP.

Clin Chem. 2017 Feb;63(2):613-615. doi: 10.1373/clinchem.2016.267328. No abstract available.


Dilated Cardiomyopathy in a 2-Year-Old Infant.

Peake RW, Daly KP.

Clin Chem. 2017 Jan;63(1):433-435. doi: 10.1373/clinchem.2016.268508. No abstract available.


Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB.

JIMD Rep. 2017;35:7-15. doi: 10.1007/8904_2016_17. Epub 2016 Nov 18.


Deranged Liver Function in a Neonate.

Peake RW.

Clin Chem. 2016 Nov;62(11):1539-1541. No abstract available.


Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F.

Clin Chem. 2016 Nov;62(11):1430-1438. Epub 2016 Sep 14. No abstract available.


Measurement of neosaxitoxin in human plasma using liquid-chromatography tandem mass spectrometry: Proof of concept for a pharmacokinetic application.

Peake RW, Zhang VY, Azcue N, Hartigan CE, Shkreta A, Prabhakara J, Berde CB, Kellogg MD.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:42-49. doi: 10.1016/j.jchromb.2016.09.043. Epub 2016 Oct 1.


Towards a random-access LC-MS/MS model for busulfan analysis.

Peake RWA, Law T, Esposito CL, Kellogg MD.

Clin Chem Lab Med. 2017 Jun 27;55(7):e154-e157. doi: 10.1515/cclm-2016-0727. No abstract available.


Increased C3 Acylcarnitine Concentration in a Newborn.

Peake RW.

Clin Chem. 2016 Oct;62(10):1410-2. doi: 10.1373/clinchem.2016.259705. No abstract available.


A Case of Increased C5-OH Acylcarnitine.

Peake RW.

Clin Chem. 2016 Sep;62(9):1278-9. doi: 10.1373/clinchem.2016.257600. No abstract available.


Seizures, Dystonia, and Spasms in a 14-Year-Old Child.

Peake RW.

Clin Chem. 2016 Aug;62(8):1159-60. doi: 10.1373/clinchem.2016.257865. No abstract available.


Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak.

Prabhakara J, Rodan L, Peake RW.

Clin Chem. 2016 May;62(5):781-2. doi: 10.1373/clinchem.2015.246181. No abstract available.


A Phase 1, Dose-escalation, Double-blind, Block-randomized, Controlled Trial of Safety and Efficacy of Neosaxitoxin Alone and in Combination with 0.2% Bupivacaine, with and without Epinephrine, for Cutaneous Anesthesia.

Lobo K, Donado C, Cornelissen L, Kim J, Ortiz R, Peake RW, Kellogg M, Alexander ME, Zurakowski D, Kurgansky KE, Peyton J, Bilge A, Boretsky K, McCann ME, Berde CB, Cravero J.

Anesthesiology. 2015 Oct;123(4):873-85. doi: 10.1097/ALN.0000000000000831.


Recommended reading for rookie LC-MS users.

Peake RW.

Clin Chem. 2015 Feb;61(2):444-5. No abstract available.


Family hardships and serum cotinine in children with asthma.

Spanier AJ, Beck AF, Huang B, McGrady ME, Drotar DD, Peake RW, Kellogg MD, Kahn RS.

Pediatrics. 2015 Feb;135(2):e416-23. doi: 10.1542/peds.2014-1748. Epub 2015 Jan 12.


Diagnostics in the front line against infectious disease.

Peake RW.

Clin Chem. 2014 Dec;60(12):1586-7. No abstract available.


Multicenter evaluation of the thermo scientific prelude for measurement of immunosuppressant drugs using sample preparation liquid chromatography-tandem mass spectrometry.

Peake RW, Hartigan CR, Esposito CL, Kellogg MD, Gabler J, Wang S, Breaud A, Di Bussolo J, Moskowitz J, Clarke W.

Ther Drug Monit. 2015 Apr;37(2):161-71. doi: 10.1097/FTD.0000000000000120.


Mice with hepatocyte-specific deficiency of type 3 deiodinase have intact liver regeneration and accelerated recovery from nonthyroidal illness after toxin-induced hepatonecrosis.

Castroneves LA, Jugo RH, Maynard MA, Lee JS, Wassner AJ, Dorfman D, Bronson RT, Ukomadu C, Agoston AT, Ding L, Luongo C, Guo C, Song H, Demchev V, Lee NY, Feldman HA, Vella KR, Peake RW, Hartigan C, Kellogg MD, Desai A, Salvatore D, Dentice M, Huang SA.

Endocrinology. 2014 Oct;155(10):4061-8. doi: 10.1210/en.2013-2028. Epub 2014 Jul 8.


Cotinine in children admitted for asthma and readmission.

Howrylak JA, Spanier AJ, Huang B, Peake RW, Kellogg MD, Sauers H, Kahn RS.

Pediatrics. 2014 Feb;133(2):e355-62. doi: 10.1542/peds.2013-2422. Epub 2014 Jan 20.


“Teaching for the masses”—The e-Learning revolution.

Peake RW.

Clin Chem. 2013 Dec;59(12):1818-9. No abstract available.


The effect of magnesium administration on erythrocyte transketolase activity in alcoholic patients treated with thiamine.

Peake RW, Godber IM, Maguire D.

Scott Med J. 2013 Aug;58(3):139-42. doi: 10.1177/0036933013496944.


Significance for the sake of significance: the relevance of statistical data.

Peake RW.

Clin Chem. 2013 Jun;59(6):1002. No abstract available.


The impact of centrifugation in primary care on pseudohyperkalaemia: a retrospective evaluation.

Turner HE, Peake RW, Allison JJ.

Ann Clin Biochem. 2013 Jul;50(Pt 4):371-3. doi: 10.1177/0004563212474566. Epub 2013 Jun 12.


Improved separation and analysis of plasma amino acids by modification of the MassTrak™ AAA Solution Ultraperformance® liquid chromatography method.

Peake RW, Law T, Hoover PN, Gaewsky L, Shkreta A, Kellogg MD.

Clin Chim Acta. 2013 Aug 23;423:75-82. doi: 10.1016/j.cca.2013.03.036. Epub 2013 Apr 24.


Biomarkers in the clinic: a cautionary tale.

Peake RW.

Clin Chem. 2012 Sep;58(9):1376-7. No abstract available.


Comparison of sample types for N-terminal pro-B-type natriuretic peptide measured on the Siemens Immulite 2500 and Dimension Vista LOCI methods.

Peake RW, Turner HE, Leaper W, Deans KA, Hannah A, Croal BL.

Ann Clin Biochem. 2012 Sep;49(Pt 5):494-6. doi: 10.1258/acb.2012.012053. Epub 2012 Aug 15.


EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature.

McDonald TJ, Perry MH, Peake RW, Pullan NJ, O'Connor J, Shields BM, Knight BA, Hattersley AT.

PLoS One. 2012;7(7):e42084. doi: 10.1371/journal.pone.0042084. Epub 2012 Jul 30.


Talking glucose meter for the visually impaired diabetic patient: the effect of haematocrit on glucose measurement.

Peake RW, Devgun MS, O'Brien IA.

Br J Biomed Sci. 2012;69(1):41-2. No abstract available.


Seasonal pseudohyperkalaemia: no longer an issue?

Turner HE, Peake RW, Allison JJ.

Ann Clin Biochem. 2012 Jan;49(Pt 1):94-6. doi: 10.1258/acb.2011.011122. Epub 2011 Nov 8.


A practical assessment of the short-term in vitro stability of troponin I at the 99 th percentile.

Peake RW, Deans KA, Croal BL.

Ann Clin Biochem. 2011 Jul;48(Pt 4):377-9. doi: 10.1258/acb.2011.011036. Epub 2011 Jun 7.


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