Gramer G - Search Results

1

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade SF, Hoffmann GF, Okun JG, Mütze U. Schnabel E, et al. Among authors: gramer g. Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355. Nutrients. 2023. PMID: 37571294 Free PMC article.

2

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.

Gramer G, Burgard P, Garbade SF, Lindner M. Gramer G, et al. J Inherit Metab Dis. 2007 Aug;30(4):556-62. doi: 10.1007/s10545-007-0651-6. Epub 2007 Aug 6. J Inherit Metab Dis. 2007. PMID: 17680344

3

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.

Gramer G, Garbade SF, Blau N, Lindner M. Gramer G, et al. J Inherit Metab Dis. 2009 Feb;32(1):52-7. doi: 10.1007/s10545-008-0955-1. Epub 2008 Nov 21. J Inherit Metab Dis. 2009. PMID: 19016342 Clinical Trial.

4

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

Lindner M, Gramer G, Garbade SF, Burgard P. Lindner M, et al. Among authors: gramer g. J Inherit Metab Dis. 2009 Aug;32(4):514-22. doi: 10.1007/s10545-009-1070-7. Epub 2009 Jun 10. J Inherit Metab Dis. 2009. PMID: 19513811 Clinical Trial.

5

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF. Lindner M, et al. Among authors: gramer g. Orphanet J Rare Dis. 2011 Jun 20;6:44. doi: 10.1186/1750-1172-6-44. Orphanet J Rare Dis. 2011. PMID: 21689452 Free PMC article.

6

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

Gramer G, Förl B, Springer C, Weimer P, Haege G, Mackensen F, Müller E, Völcker HE, Hoffmann GF, Lindner M, Krastel H, Burgard P. Gramer G, et al. Mol Genet Metab. 2013 Jan;108(1):1-7. doi: 10.1016/j.ymgme.2012.10.021. Epub 2012 Oct 30. Mol Genet Metab. 2013. PMID: 23219290

7

Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.

Gramer G, Haege G, Glahn EM, Hoffmann GF, Lindner M, Burgard P. Gramer G, et al. J Inherit Metab Dis. 2014 Mar;37(2):189-95. doi: 10.1007/s10545-013-9639-6. Epub 2013 Aug 16. J Inherit Metab Dis. 2014. PMID: 23949009

8

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, Burgard P, Lindner M. Gramer G, et al. JIMD Rep. 2015;23:101-12. doi: 10.1007/8904_2015_439. Epub 2015 May 5. JIMD Rep. 2015. PMID: 25940036 Free PMC article.

9

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE. Kunz JB, et al. Among authors: gramer g. Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12. Ann Hematol. 2016. PMID: 26658910

10

Genetic cause and prevalence of hydroxyprolinemia.

Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S. Staufner C, et al. Among authors: gramer g. J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2. J Inherit Metab Dis. 2016. PMID: 27139199

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

55 results

Search Page