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Items: 1 to 20 of 282

1.

Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.

Lee HC, Mak CM, Lam CW, Yuen YP, Chan AO, Shek CC, Siu TS, Lai CK, Ching CK, Siu WK, Chen SP, Law CY, Tai HL, Tam S, Chan AY.

Chin Med J (Engl). 2011 Apr;124(7):983-9.

PMID:
21542954
2.

Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong.

Lee HH, Mak CM, Poon GW, Wong KY, Lam CW.

J Med Screen. 2014 Jun;21(2):61-70. doi: 10.1177/0969141314533531. Epub 2014 May 6.

PMID:
24803483
3.

Inborn errors of metabolism and expanded newborn screening: review and update.

Mak CM, Lee HC, Chan AY, Lam CW.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62. doi: 10.3109/10408363.2013.847896. Review.

PMID:
24295058
4.

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Wilcken B, Wiley V, Hammond J, Carpenter K.

N Engl J Med. 2003 Jun 5;348(23):2304-12.

5.

Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

Mak CM, Ko CH, Lam CW, Lau WL, Siu WK, Chen SP, Law CY, Lai CK, Yu CM, Chan AY.

Chin Med J (Engl). 2011 Aug;124(16):2556-8.

PMID:
21933604
6.

The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening.

Wilson C, Kerruish NJ, Wilcken B, Wiltshire E, Webster D.

N Z Med J. 2007 Sep 21;120(1262):U2727.

PMID:
17891215
7.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF.

Pediatrics. 2003 Jun;111(6 Pt 1):1399-406.

PMID:
12777559
8.

Parental attitudes on expanded newborn screening in Hong Kong.

Mak CM, Lam CW, Law CY, Siu WK, Kwong LL, Chan KL, Chan WT, Chow KM, Lee KW, Chan WP, Chan AY.

Public Health. 2012 Nov;126(11):954-9. doi: 10.1016/j.puhe.2012.08.002. Epub 2012 Nov 10.

PMID:
23148889
9.

Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.

Fingerhut R, Ensenauer R, Röschinger W, Arnecke R, Olgemöller B, Roscher AA.

Anal Chem. 2009 May 1;81(9):3571-5. doi: 10.1021/ac8022235.

PMID:
19323528
10.

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China.

Huang X, Yang L, Tong F, Yang R, Zhao Z.

BMC Pediatr. 2012 Feb 24;12:18. doi: 10.1186/1471-2431-12-18.

11.

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH.

Health Technol Assess. 1997;1(11):i-iv, 1-95. Review.

12.

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.

13.

Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.

Simonsen H, Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:166-9.

PMID:
11400760
14.
15.

Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease.

Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I.

J Chromatogr B Biomed Sci Appl. 1999 Aug 6;731(1):141-7.

PMID:
10492000
16.

Application of electrospray tandem mass spectrometry to neonatal screening.

Rashed MS, Rahbeeni Z, Ozand PT.

Semin Perinatol. 1999 Apr;23(2):183-93. Review.

PMID:
10331469
17.

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.

Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):53-61. doi: 10.1016/j.ymgme.2014.07.018. Epub 2014 Jul 23.

PMID:
25102806
18.

Long-term stability of amino acids and acylcarnitines in dried blood spots.

Strnadová KA, Holub M, Mühl A, Heinze G, Ratschmann R, Mascher H, Stöckler-Ipsiroglu S, Waldhauser F, Votava F, Lebl J, Bodamer OA.

Clin Chem. 2007 Apr;53(4):717-22. Epub 2007 Feb 1.

19.

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

Applegarth DA, Toone JR, Lowry RB.

Pediatrics. 2000 Jan;105(1):e10.

PMID:
10617747
20.

A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing.

Chace DH, Kalas TA.

Clin Biochem. 2005 Apr;38(4):296-309. Review. Erratum in: Clin Biochem. 2005 May;38(5):495.

PMID:
15766731

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