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Items: 1 to 20 of 617

1.

Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease.

Vaca G, Hernández A, Ibarra B, Velázquez A, Olivares N, Sanchez-Corona J, Medina C, Cantú JM.

Arch Invest Med (Mex). 1981;12(3):341-8. English, Spanish.

PMID:
7294941
2.

[Progress in the early detection of inborn errors of metabolism].

Bozkowa K, Cabalska B, Duczyńska N, Grodzka Z, Sendecka E, Nowakowska A, Lenartowska I, Kasperska-Dworak A, Helwich E.

Probl Med Wieku Rozwoj. 1981;10:69-85. Polish.

PMID:
7349406
3.

[Metabolic disorders and corneal changes (author's transl)].

François J.

Klin Monbl Augenheilkd. 1981 Jun;178(6):419-23. German.

PMID:
6973662
4.

[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)].

Koepp P, Grüttner R.

Klin Padiatr. 1975 Jan;187(1):14-9. German.

PMID:
1168276
5.

High performance liquid chromatography (HPLC) method for confirming thin layer chromatography (TLC) findings in inborn errors of metabolism children in Malaysia.

Yahya NA, Ismail Z, Embong KH, Mohamad SA.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:130-3.

PMID:
8629091
6.

[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].

Xie LJ, Zhu JX, Zhu XD, Li HJ, Han LS, Gu XF.

Zhongguo Dang Dai Er Ke Za Zhi. 2008 Feb;10(1):31-4. Chinese.

PMID:
18289467
7.

Diagnosis and therapy of organic acidurias.

Sperl W.

Padiatr Padol. 1993;28(1):3-8. Review.

PMID:
8446425
8.

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
9.

[Diseases of newborn infants based on inborn anomalies of metabolism. 1. Theoretical principles].

Plöchl E.

Wien Med Wochenschr. 1970 Oct 10;120(41):707-11. Review. German. No abstract available.

PMID:
4918107
10.

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

Simonsen H.

Ugeskr Laeger. 2002 Nov 25;164(48):5607-12. Review. Danish.

PMID:
12523003
11.

[Recent advances in inborn errors of metabolism].

Diament AJ.

Arq Neuropsiquiatr. 1987 Jun;45(2):177-87. Review. Portuguese.

PMID:
3322240
12.

Screening for metabolic disorders among high risk infants and children.

Berry HK.

Health Lab Sci. 1977 Jul;14(3):183-93.

PMID:
141435
13.

Prenatal diagnosis of inborn errors of metabolism.

Mahoney MJ.

Clin Perinatol. 1979 Sep;6(2):255-73. Review. No abstract available.

PMID:
391465
14.

The critically ill child: acute metabolic disease in infancy and early childhood.

O'Brien D, Goodman SI.

Pediatrics. 1970 Oct;46(4):620-6. No abstract available.

PMID:
5503697
15.

[Early diagnosis of enzymatic disorders in protein and carbohydrate metabolism].

Otter G.

Offentl Gesundheitswes. 1970 Jan;32(1):11-7. German. No abstract available.

PMID:
4245079
16.

[Early diagnosis of congenital metabolic diseases].

Steuer W.

Cah Med. 1971 Oct 15;12(12):1009-13. French. No abstract available.

PMID:
5130231
17.

Early detection of inborn errors of metabolism in Poland.

Bozkowa K, Cabalska B, Duczynska N, Grodzka Z, Lenartowska I, Helwich E.

Acta Anthropogenet. 1983;7(4):373-81.

PMID:
6680316
18.

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.

19.

Prenatal detection of heritable metabolic disorders.

Thompson JN.

Pediatr Ann. 1978 Jun;7(6):25-7, 30-1, 33-6 passim. No abstract available.

PMID:
97614
20.

Set of simple side-room urine tests for detection of inborn errors of metabolism.

Buist NR.

Br Med J. 1968 Jun 22;2(5607):745-9. No abstract available.

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