Knerr I - Search Results

1

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A. Zenker M, et al. Among authors: knerr i. Am J Med Genet A. 2005 Jan 15;132A(2):185-8. doi: 10.1002/ajmg.a.30414. Am J Med Genet A. 2005. PMID: 15578616

2

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I. Jung R, et al. Among authors: knerr i. Mol Genet Metab. 2006 Jul;88(3):256-60. doi: 10.1016/j.ymgme.2006.02.003. Epub 2006 Mar 20. Mol Genet Metab. 2006. PMID: 16545979

3

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A. Thiel CT, et al. Among authors: knerr i. Mol Genet Metab. 2008 Jul;94(3):356-62. doi: 10.1016/j.ymgme.2008.02.013. Epub 2008 Apr 14. Mol Genet Metab. 2008. PMID: 18411068

4

Glutaric aciduria type III: a distinctive non-disease?

Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Müller P, Christensen E, Trefz FK, Wündisch GF, Rascher W, Hoffmann GF. Knerr I, et al. J Inherit Metab Dis. 2002 Oct;25(6):483-90. doi: 10.1023/a:1021207419125. J Inherit Metab Dis. 2002. PMID: 12555941

5

Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.

Knerr I, Gibson KM, Ganesh J, Bennett MJ, Salomons GS, Jakobs C, Myers SM. Knerr I, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):946-8. doi: 10.1002/ajmg.b.30553. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17471494

6

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.

Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: knerr i. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.

7

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693

8

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.

9

Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Knerr I, Gibson KM, Jakobs C, Pearl PL. Knerr I, et al. CNS Spectr. 2008 Jul;13(7):598-605. doi: 10.1017/s1092852900016874. CNS Spectr. 2008. PMID: 18622364 Free PMC article.

10

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Pearl PL, et al. Among authors: knerr i. J Inherit Metab Dis. 2009 Jun;32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28. J Inherit Metab Dis. 2009. PMID: 19172412 Free PMC article. Review.

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