Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 171

1.

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D.

Clin Chem. 2018 Oct 23. pii: clinchem.2018.293712. doi: 10.1373/clinchem.2018.293712. [Epub ahead of print]

PMID:
30352867
2.

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.

Merritt JL 2nd, Brody LL, Pino G, Rinaldo P.

Mol Genet Metab. 2018 Jun;124(2):109-113. doi: 10.1016/j.ymgme.2018.04.006. Epub 2018 Apr 20.

PMID:
29703588
3.

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D.

Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11.

4.

Precision newborn screening for lysosomal disorders.

Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P.

Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9.

PMID:
29120458
5.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P.

Genet Med. 2018 Aug;20(8):840-846. doi: 10.1038/gim.2017.190. Epub 2017 Nov 2.

PMID:
29095812
6.

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D.

J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011.

PMID:
28826609
7.

Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.

Elgilani F, Mao SA, Glorioso JM, Yin M, Iankov ID, Singh A, Amiot B, Rinaldo P, Marler RJ, Ehman RL, Grompe M, Lillegard JB, Hickey RD, Nyberg SL.

Am J Pathol. 2017 Jan;187(1):33-41. doi: 10.1016/j.ajpath.2016.09.013. Epub 2016 Nov 14.

8.

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.

Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL.

Sci Transl Med. 2016 Jul 27;8(349):349ra99. doi: 10.1126/scitranslmed.aaf3838.

9.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D.

Clin Chem. 2016 Sep;62(9):1248-54. doi: 10.1373/clinchem.2016.256255. Epub 2016 Jul 20.

10.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.

Randall M, Rolf C, Gibson SM, Hall PL, Rinaldo P, Davis GJ.

J Forensic Sci. 2015 Jul;60(4):1101-3. doi: 10.1111/1556-4029.12808.

PMID:
26223762
11.

Newborn screening for lysosomal storage disorders.

Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Review.

PMID:
25891428
12.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
13.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ.

J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. Review.

14.

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D.

J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12.

PMID:
25762404
15.

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.

16.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Matern D, Rinaldo P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Apr 20 [updated 2015 Mar 5].

17.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.

Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013. Epub 2014 Nov 27.

PMID:
25481105
18.

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease.

Hickey RD, Mao SA, Glorioso J, Lillegard JB, Fisher JE, Amiot B, Rinaldo P, Harding CO, Marler R, Finegold MJ, Grompe M, Nyberg SL.

Stem Cell Res. 2014 Jul;13(1):144-53. doi: 10.1016/j.scr.2014.05.003. Epub 2014 May 14.

19.

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.

Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, Rinaldo P.

Genet Med. 2014 Dec;16(12):889-95. doi: 10.1038/gim.2014.62. Epub 2014 May 29.

20.

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G.

Clin Chem. 2013 Oct;59(10):1461-9. doi: 10.1373/clinchem.2013.207472. Epub 2013 Jul 9.

21.

From art to science: oligosaccharide analysis by maldi-tof mass spectrometry finally replaces 1-dimensional thin-layer chromatography.

Raymond K, Rinaldo P.

Clin Chem. 2013 Sep;59(9):1297-8. doi: 10.1373/clinchem.2013.208793. Epub 2013 Jun 21. No abstract available.

22.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):176-8. doi: 10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10.

PMID:
23628460
23.

Cold storage of rat hepatocyte spheroids.

Liu H, Yu Y, Glorioso J, Mao S, Rodysil B, Amiot BP, Rinaldo P, Nyberg SL.

Cell Transplant. 2014;23(7):819-30. doi: 10.3727/096368913X664847. Epub 2013 Mar 5.

PMID:
23507348
24.

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

de Sain-van der Velden MG, Rinaldo P, Elvers B, Henderson M, Walter JH, Prinsen BH, Verhoeven-Duif NM, de Koning TJ, van Hasselt P.

JIMD Rep. 2012;6:95-9. doi: 10.1007/8904_2011_122. Epub 2012 Feb 24.

25.

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.

Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M.

JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6.

26.

Hepatocyte-like cells differentiated from human induced pluripotent stem cells: relevance to cellular therapies.

Yu Y, Liu H, Ikeda Y, Amiot BP, Rinaldo P, Duncan SA, Nyberg SL.

Stem Cell Res. 2012 Nov;9(3):196-207. doi: 10.1016/j.scr.2012.06.004. Epub 2012 Jun 28.

27.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA.

Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13.

PMID:
22885033
28.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
29.

Newborn screening for metabolic disorders: how are we doing, and where are we going?

Bennett MJ, Rinaldo P, Wilcken B, Pass KA, Watson MS, Wanders RJ.

Clin Chem. 2012 Feb;58(2):324-31. doi: 10.1373/clinchem.2011.171215. Epub 2011 Aug 24. No abstract available.

30.

A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder.

Watson MS, Howell RR, Rinaldo P.

J Health Soc Behav. 2011 Jun;52(2):277-8; authors reply 279-81. doi: 10.1177/0022146511411435. No abstract available.

PMID:
21673149
31.

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P.

Pediatrics. 2011 Jul;128(1):e246-50. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13.

PMID:
21669895
32.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
33.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D.

Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31.

34.

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D.

Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8.

PMID:
20434380
35.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK.

J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

PMID:
20394947
36.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE.

Mol Genet Metab. 2010 Jun;100(2):136-42. doi: 10.1016/j.ymgme.2009.11.010. Epub 2009 Dec 5.

PMID:
20307994
37.

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.

Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children.

Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.

PMID:
20154628
38.

Homogentisic acid interference in routine urine creatinine determination.

Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K.

Mol Genet Metab. 2010 May;100(1):103-4. doi: 10.1016/j.ymgme.2010.01.006. Epub 2010 Jan 21.

PMID:
20138792
39.

Improving newborn screening laboratory test ordering and result reporting using health information exchange.

Downs SM, van Dyck PC, Rinaldo P, McDonald C, Howell RR, Zuckerman A, Downing G.

J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8. doi: 10.1197/jamia.M3295.

40.

National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

Dietzen DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg UC, Lo SF, Bennett MJ.

Clin Chem. 2009 Sep;55(9):1615-26. doi: 10.1373/clinchem.2009.131300. Epub 2009 Jul 2.

41.

Gene expression and functional analyses of primary rat hepatocytes on nanofiber matrices.

Brophy CM, Luebke-Wheeler JL, Amiot BP, Remmel RP, Rinaldo P, Nyberg SL.

Cells Tissues Organs. 2010;191(2):129-40. doi: 10.1159/000223235. Epub 2009 Jun 1.

PMID:
19494481
42.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16.

PMID:
19089597
43.

Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function.

Brophy CM, Luebke-Wheeler JL, Amiot BP, Khan H, Remmel RP, Rinaldo P, Nyberg SL.

Hepatology. 2009 Feb;49(2):578-86. doi: 10.1002/hep.22674.

44.

Newborn screening of metabolic disorders: recent progress and future developments.

Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D.

Nestle Nutr Workshop Ser Pediatr Program. 2008;62:81-93; discussion 93-6. doi: 10.1159/000146253. Review.

PMID:
18626194
45.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.

Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4.

PMID:
18523805
46.

Acylcarnitine profile analysis.

Rinaldo P, Cowan TM, Matern D.

Genet Med. 2008 Feb;10(2):151-6. doi: 10.1097/GIM.0b013e3181614289.

PMID:
18281923
47.

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D.

Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15.

48.

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.

Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4.

49.

Committee Report: advancing the current recommended panel of conditions for newborn screening.

Green NS, Rinaldo P, Brower A, Boyle C, Dougherty D, Lloyd-Puryear M, Mann MY, Howell RR; Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

Genet Med. 2007 Nov;9(11):792-6.

PMID:
18007148
50.

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007).

Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P.

J Inherit Metab Dis. 2007 Aug;30(4):585-92. Epub 2007 Jul 23.

PMID:
17643193

Supplemental Content

Loading ...
Support Center