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Items: 1 to 20 of 75

1.

What is your guess? A four-day-old boy with an abnormal metabolic screen.

Zhang Y, Hoover PN, Kellogg MD.

Clin Chem. 2011 Jun;57(6):927-8. doi: 10.1373/clinchem.2011.163154. No abstract available.

2.

Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).

Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C.

Med Health R I. 2011 May;94(5):121-3. No abstract available.

PMID:
21710918
3.

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.

Chen BC, Ngu LH, Zabedah MY.

Malays J Pathol. 2010 Dec;32(2):87-95.

4.

Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria.

De Biase I, Liu A, Yuzyuk T, Longo N, Pasquali M.

Clin Chim Acta. 2015 Mar 10;442:73-4. doi: 10.1016/j.cca.2015.01.008. Epub 2015 Jan 15. No abstract available.

PMID:
25598409
5.
6.

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, Strobl MW, Scheibenreiter S, Muehl A, Stöckler-Ipsiroglu S.

Mol Genet Metab. 2010 May;100(1):24-8. doi: 10.1016/j.ymgme.2010.01.013. Epub 2010 Feb 4.

PMID:
20236848
7.

Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

Böhles H, Heid H, Harms D, Schmid D, Fekl W.

Eur J Pediatr. 1978 Jul 19;128(4):225-33.

PMID:
668730
8.

Excessive protein intake: a common cause of false-positive neonatal screening for tyrosinemia.

Bartholomew DW, Batshaw M, Wilson MD, Semenza G.

Md Med J. 1987 May;36(5):429-32. No abstract available.

PMID:
3600219
9.

Method for the quantification of underivatized amino acids on dry blood spots from newborn screening by HPLC-ESI-MS/MS.

Zoppa M, Gallo L, Zacchello F, Giordano G.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 2;831(1-2):267-73. Epub 2006 Jan 4.

PMID:
16388997
10.

Urea cycle disorders: clinical presentation outside the newborn period.

Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M.

Crit Care Clin. 2005 Oct;21(4 Suppl):S9-17. Review.

PMID:
16227115
12.

Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.

van der Heiden C, Gerards LJ, van Biervliet JP, Desplanque J, de Bree PK, van Sprang FJ, Wadman SK.

Helv Paediatr Acta. 1976 Dec;31(4-5):407-17. No abstract available.

PMID:
1017984
13.

Parental tolerance of false-positive newborn screening results.

Prosser LA, Ladapo JA, Rusinak D, Waisbren SE.

Arch Pediatr Adolesc Med. 2008 Sep;162(9):870-6. doi: 10.1001/archpediatrics.2008.1.

PMID:
18762606
14.

Enhancing newborn screening for tyrosinemia type I.

Pass KA, Morrissey M.

Clin Chem. 2008 Apr;54(4):627-9. doi: 10.1373/clinchem.2008.103200. No abstract available.

15.

Current approaches to genetic metabolic screening in newborns.

Levy HL, Cornier AS.

Curr Opin Pediatr. 1994 Dec;6(6):707-11. Review.

PMID:
7849819
16.

Screening for inborn errors of amino acid metabolism.

Wu JT.

Ann Clin Lab Sci. 1991 Mar-Apr;21(2):123-42. Review.

PMID:
2029175
18.

[Attempt at antenatal diagnosis of argininosuccinic aciduria].

Dhondt JL, Farriaux JP, Pollitt RJ, Vamos E, Richard P, Blanckaert D, Delecour M, Monnier JC, Fontaine G.

Ann Genet. 1976 Mar;19(1):23-7. French.

PMID:
1084118
19.

Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.

Marble M, McGoey RR, Mannick E, Keats B, Ng SS, Deputy S, Gereighty H, Schmidt-Sommerfeld E.

J Pediatr Gastroenterol Nutr. 2008 Apr;46(4):453-6. doi: 10.1097/MPG.0b013e3180ca8720. No abstract available. Erratum in: J Pediatr Gastroenterol Nutr. 2008 Jul;47(1):113..

PMID:
18367960
20.

False-positive results in expanded newborn screening.

Hanley WB.

Pediatrics. 2007 Feb;119(2):414-5; author reply 415. No abstract available.

PMID:
17272638

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