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Items: 1 to 20 of 75

1.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P.

J Inherit Metab Dis. 2007 Feb;30(1):5-22. Epub 2007 Jan 3.

PMID:
17203377
2.

Diagnosis and management of glutaric aciduria type I--revised recommendations.

Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P.

J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. Review.

3.

Neonatal screening for glutaric aciduria type I: strategies to proceed.

Lindner M, Ho S, Fang-Hoffmann J, Hoffmann GF, Kölker S.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):378-82. Review.

PMID:
16763905
4.

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.

5.

Glutaric aciduria types I and II.

Gordon N.

Brain Dev. 2006 Apr;28(3):136-40. Epub 2005 Dec 20. Review.

PMID:
16368216
6.

Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF.

J Inherit Metab Dis. 2004;27(6):851-9. Review.

PMID:
15505392
7.

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Wang Q, Yang YL.

Zhongguo Dang Dai Er Ke Za Zhi. 2016 May;18(5):460-5. Review. Chinese.

8.

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Koeller DM, Okun JG, Hoffmann GF.

Ann Neurol. 2004 Jan;55(1):7-12. Review.

PMID:
14705106
9.

[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
10.
11.

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.

Hoffmann GF, Zschocke J.

J Inherit Metab Dis. 1999 Jun;22(4):381-91. Review.

PMID:
10407775
12.

Glutaric acidemia type 1.

Hedlund GL, Longo N, Pasquali M.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. Review.

13.

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

Superti-Furga A.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S17-20. Epub 2003 Oct 25. Review.

PMID:
14579152
15.

Emergency treatment in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF.

J Inherit Metab Dis. 2004;27(6):893-902. Review.

PMID:
15505397
16.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors..

J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. Review.

PMID:
27853989
17.

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

Jafari P, Braissant O, Bonafé L, Ballhausen D.

Mol Genet Metab. 2011 Dec;104(4):425-37. doi: 10.1016/j.ymgme.2011.08.027. Epub 2011 Sep 2. Review.

PMID:
21944461
18.

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. Review.

PMID:
16046200
19.

Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.

Kölker S, Burgard P, Okun JG, Schulze-Bergkamen A, Assmann B, Greenberg CR, Hoffmann GF.

J Inherit Metab Dis. 2004;27(6):921-6. Review.

PMID:
15505401
20.

Neurological manifestations of organic acid disorders.

Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D.

Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. Review.

PMID:
7957396

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