G Gramer
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Explore the profile of G Gramer including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
15
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Recent Articles
1.
Grunert S, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller A, et al.
BMC Pediatr
. 2020 Nov;
20(1):518.
PMID: 33176737
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is...
2.
Reiter C, Gramer E, Gramer G
Klin Monbl Augenheilkd
. 2011 Nov;
229(3):241-5.
PMID: 22105538
Background, Material And Methods: 1. An evaluation of medical findings and photodocumentation of 6 patients with pseudoexfoliation (PEX) material on the anterior surface of posterior chamber intraocular lenses was undertaken....
3.
Lindner M, Gramer G, Garbade S, Burgard P
J Inherit Metab Dis
. 2009 Jun;
32(4):514-22.
PMID: 19513811
Tetrahydrobiopterin (BH(4)) cofactor loading is a standard procedure to differentiate defects of BH(4) metabolism from phenylalanine hydroxylase (PAH) deficiency. BH(4) responsiveness also exists in PAH-deficient patients with high residual PAH...
4.
Gramer G, Garbade S, Blau N, Lindner M
J Inherit Metab Dis
. 2008 Nov;
32(1):52-7.
PMID: 19016342
Background: Tetrahydrobiopterin (BH(4)) loading has been performed for many years in patients detected by newborn screening for hyperphenylalaninaemia (HPA) to distinguish BH(4) cofactor synthesis or recycling defects from phenylalanine hydroxylase...
5.
Gramer G, Burgard P, Garbade S, Lindner M
J Inherit Metab Dis
. 2007 Aug;
30(4):556-62.
PMID: 17680344
In recent years several studies on tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency have been published. The molecular mechanisms of BH4 responsiveness are not conclusively understood, but there is evidence that...