Haas D - Search Results

1

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.

Jahnel J, Zöhrer E, Fischler B, D'Antiga L, Debray D, Dezsofi A, Haas D, Hadzic N, Jacquemin E, Lamireau T, Maggiore G, McKiernan PJ, Calvo PL, Verkade HJ, Hierro L, McLin V, Baumann U, Gonzales E. Jahnel J, et al. Among authors: d antiga l, haas d. J Pediatr Gastroenterol Nutr. 2017 Jun;64(6):864-868. doi: 10.1097/MPG.0000000000001546. J Pediatr Gastroenterol Nutr. 2017. PMID: 28267072

2

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.

Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: haas d. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823

3

Differential diagnosis in patients with suspected bile acid synthesis defects.

Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG. Haas D, et al. World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067. World J Gastroenterol. 2012. PMID: 22416181 Free PMC article.

4

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

Monostori P, Klinke G, Hauke J, Richter S, Bierau J, Garbade SF, Hoffmann GF, Langhans CD, Haas D, Okun JG. Monostori P, et al. Among authors: haas d. PLoS One. 2019 Feb 28;14(2):e0212458. doi: 10.1371/journal.pone.0212458. eCollection 2019. PLoS One. 2019. PMID: 30817767 Free PMC article.

5

L-alanine supplementation in late infantile glycogen storage disease type II.

Bodamer OA, Haas D, Hermans MM, Reuser AJ, Hoffmann GF. Bodamer OA, et al. Among authors: haas d. Pediatr Neurol. 2002 Aug;27(2):145-6. doi: 10.1016/s0887-8994(02)00413-7. Pediatr Neurol. 2002. PMID: 12213618

6

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Wolf NI, et al. Among authors: haas d. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

7

Mevalonate kinase deficiency and autoinflammatory disorders.

Haas D, Hoffmann GF. Haas D, et al. N Engl J Med. 2007 Jun 28;356(26):2671-3. doi: 10.1056/NEJMp078083. N Engl J Med. 2007. PMID: 17596600 No abstract available.

8

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Haas D, Niklowitz P, Hörster F, Baumgartner ER, Prasad C, Rodenburg RJ, Hoffmann GF, Menke T, Okun JG. Haas D, et al. J Inherit Metab Dis. 2009 Aug;32(4):570-5. doi: 10.1007/s10545-009-1150-8. Epub 2009 Jun 7. J Inherit Metab Dis. 2009. PMID: 19504350

9

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

Haas D, Gan-Schreier H, Langhans CD, Anninos A, Haege G, Burgard P, Schulze A, Hoffmann GF, Okun JG. Haas D, et al. Gene. 2014 Mar 15;538(1):188-94. doi: 10.1016/j.gene.2014.01.019. Epub 2014 Jan 15. Gene. 2014. PMID: 24440240

10

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.

Grünert SC, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U. Grünert SC, et al. Among authors: haas d. J Inherit Metab Dis. 2021 Jul;44(4):893-902. doi: 10.1002/jimd.12372. Epub 2021 Mar 10. J Inherit Metab Dis. 2021. PMID: 33638202

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