Haas D - Search Results

1

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle.

Kipp S, Segelke D, Schierenbeck S, Reinhardt F, Reents R, Wurmser C, Pausch H, Fries R, Thaller G, Tetens J, Pott J, Haas D, Raddatz BB, Hewicker-Trautwein M, Proios I, Schmicke M, Grünberg W. Kipp S, et al. Among authors: haas d. J Dairy Sci. 2016 Nov;99(11):8915-8931. doi: 10.3168/jds.2016-11118. Epub 2016 Sep 7. J Dairy Sci. 2016. PMID: 27614835 Free article.

2

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF. Prietsch V, et al. Among authors: haas d. Pediatrics. 2003 Feb;111(2):258-61. doi: 10.1542/peds.111.2.258. Pediatrics. 2003. PMID: 12563048

3

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

Haas D, Hoffmann GF. Haas D, et al. Orphanet J Rare Dis. 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. Orphanet J Rare Dis. 2006. PMID: 16722536 Free PMC article. Review.

4

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P. Haas D, et al. J Inherit Metab Dis. 2007 Jun;30(3):375-87. doi: 10.1007/s10545-007-0537-7. Epub 2007 May 11. J Inherit Metab Dis. 2007. PMID: 17497248 Clinical Trial.

5

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. Among authors: haas d. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971

6

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Beck-Wödl S, Kehrer C, Harzer K, Haack TB, Bürger F, Haas D, Rieß A, Groeschel S, Krägeloh-Mann I, Böhringer J. Beck-Wödl S, et al. Among authors: haas d. JIMD Rep. 2020 Dec 8;58(1):80-88. doi: 10.1002/jmd2.12189. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728250 Free PMC article.

7

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Lindner M, et al. Among authors: haas d. Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168. Mol Genet Metab. 2001. PMID: 11350190

8

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.

9

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. Among authors: haas d. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757

10

Health Outcomes of Infants with Vitamin B₁₂ Deficiency Identified by Newborn Screening and Early Treated.

Mütze U, Walter M, Keller M, Gramer G, Garbade SF, Gleich F, Haas D, Posset R, Grünert SC, Hennermann JB, Thimm E, Fang-Hoffmann J, Syrbe S, Okun JG, Hoffmann GF, Kölker S. Mütze U, et al. Among authors: haas d. J Pediatr. 2021 Aug;235:42-48. doi: 10.1016/j.jpeds.2021.02.009. Epub 2021 Feb 11. J Pediatr. 2021. PMID: 33581104

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