Ranieri E - Search Results

1

Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency.

Trinh MU, Blake J, Harrison JR, Gerace R, Ranieri E, Fletcher JM, Johnson DW. Trinh MU, et al. Among authors: ranieri e. Clin Chem. 2003 Apr;49(4):681-4. doi: 10.1373/49.4.681. Clin Chem. 2003. PMID: 12651832 No abstract available.

2

Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.

Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF. Ranieri E, et al. BMJ. 1994 Jun 4;308(6942):1469-72. doi: 10.1136/bmj.308.6942.1469. BMJ. 1994. PMID: 8019280 Free PMC article.

3

Modifying an enzyme immunoassay of immunoreactive trypsinogen to use time-resolved fluorescence.

Ryall RG, Gjerde EM, Gerace RL, Ranieri E. Ryall RG, et al. Among authors: ranieri e. Clin Chem. 1993 Feb;39(2):224-8. Clin Chem. 1993. PMID: 8432010

4

Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens.

Chin S, Ranieri E, Gerace RL, Nelson PV, Carey WF. Chin S, et al. Among authors: ranieri e. Lancet. 1997 Nov 8;350(9088):1368-9. doi: 10.1016/s0140-6736(05)65140-9. Lancet. 1997. PMID: 9365460 No abstract available.

5

Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.

Poplawski NK, Ranieri E, Harrison JR, Fletcher JM. Poplawski NK, et al. Among authors: ranieri e. J Pediatr. 1999 Jun;134(6):764-6. doi: 10.1016/s0022-3476(99)70295-7. J Pediatr. 1999. PMID: 10356148

6

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ. Umapathysivam K, et al. Among authors: ranieri e. Clin Chem. 2000 Sep;46(9):1318-25. Clin Chem. 2000. PMID: 10973860

7

Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry.

Rozaklis T, Ramsay SL, Whitfield PD, Ranieri E, Hopwood JJ, Meikle PJ. Rozaklis T, et al. Among authors: ranieri e. Clin Chem. 2002 Jan;48(1):131-9. Clin Chem. 2002. PMID: 11751548

8

Newborn screening in South Australia: is it universal?

Metz MP, Ranieri E, Gerace RL, Priest KR, Luke CG, Chan A. Metz MP, et al. Among authors: ranieri e. Med J Aust. 2003 Oct 20;179(8):412-5. doi: 10.5694/j.1326-5377.2003.tb05618.x. Med J Aust. 2003. PMID: 14558864

9

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: ranieri e. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865

10

Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.

Johnson DW, Gerace R, Ranieri E, Trinh MU, Fingerhut R. Johnson DW, et al. Among authors: ranieri e. Rapid Commun Mass Spectrom. 2007;21(1):59-63. doi: 10.1002/rcm.2806. Rapid Commun Mass Spectrom. 2007. PMID: 17133337

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