Häberle J - Search Results

1

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Among authors: haberle j. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327

2

Congenital glutamine deficiency with glutamine synthetase mutations.

Häberle J, Görg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Höhne W, Schliess F, Häussinger D, Koch HG. Häberle J, et al. N Engl J Med. 2005 Nov 3;353(18):1926-33. doi: 10.1056/NEJMoa050456. N Engl J Med. 2005. PMID: 16267323 Free article.

3

Inborn error of amino acid synthesis: human glutamine synthetase deficiency.

Häberle J, Görg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Häussinger D. Häberle J, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):352-8. doi: 10.1007/s10545-006-0256-5. J Inherit Metab Dis. 2006. PMID: 16763901 Review.

4

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: haberle j. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945

5

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J. Sass JO, et al. Among authors: haberle j. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945527

6

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

Engel K, Nuoffer JM, Mühlhausen C, Klaus V, Largiadèr CR, Tsiakas K, Santer R, Wermuth B, Häberle J. Engel K, et al. Among authors: haberle j. Mol Genet Metab. 2008 Jul;94(3):292-7. doi: 10.1016/j.ymgme.2008.03.009. Epub 2008 Apr 25. Mol Genet Metab. 2008. PMID: 18440262

7

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. Mercimek-Mahmutoglu S, et al. Among authors: haberle j. Mol Genet Metab. 2010 May;100(1):24-8. doi: 10.1016/j.ymgme.2010.01.013. Epub 2010 Feb 4. Mol Genet Metab. 2010. PMID: 20236848

8

Transient fulminant liver failure as an initial presentation in citrullinemia type I.

Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A. Faghfoury H, et al. Among authors: haberle j. Mol Genet Metab. 2011 Apr;102(4):413-7. doi: 10.1016/j.ymgme.2010.12.007. Epub 2010 Dec 16. Mol Genet Metab. 2011. PMID: 21227727

9

Natural course of glutamine synthetase deficiency in a 3 year old patient.

Häberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T. Häberle J, et al. Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4. Mol Genet Metab. 2011. PMID: 21353613

10

Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1.

Kretz R, Hu L, Wettstein V, Leiteritz D, Häberle J. Kretz R, et al. Among authors: haberle j. Mol Genet Metab. 2012 Jul;106(3):375-8. doi: 10.1016/j.ymgme.2012.04.011. Epub 2012 Apr 23. Mol Genet Metab. 2012. PMID: 22575620

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