Mönch E - Search Results

1

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Among authors: monch e. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985

2

Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.

Hennermann JB, Roloff S, Gebauer C, Vetter B, von Arnim-Baas A, Mönch E. Hennermann JB, et al. Among authors: monch e. Mol Genet Metab. 2012 Nov;107(3):294-301. doi: 10.1016/j.ymgme.2012.09.021. Epub 2012 Sep 27. Mol Genet Metab. 2012. PMID: 23062575

3

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.

Stuhrmann M, Riess O, Mönch E, Kurdoglu G. Stuhrmann M, et al. Among authors: monch e. Clin Genet. 1989 Aug;36(2):117-21. doi: 10.1111/j.1399-0004.1989.tb03173.x. Clin Genet. 1989. PMID: 2569949

4

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.

Hennermann JB, Bührer C, Blau N, Vetter B, Mönch E. Hennermann JB, et al. Among authors: monch e. Mol Genet Metab. 2005 Dec;86 Suppl 1:S86-90. doi: 10.1016/j.ymgme.2005.05.013. Epub 2005 Jul 26. Mol Genet Metab. 2005. PMID: 16051511

5

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

Hennermann JB, Vetter B, Wolf C, Windt E, Bührdel P, Seidel J, Mönch E, Kulozik AE. Hennermann JB, et al. Among authors: monch e. Hum Mutat. 2000;15(3):254-60. doi: 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10679941

6

HFE gene mutation and transferrin saturation in very low birthweight infants.

Maier RF, Witt H, Bührer C, Mönch E, Köttgen E. Maier RF, et al. Among authors: monch e. Arch Dis Child Fetal Neonatal Ed. 1999 Sep;81(2):F144-5. doi: 10.1136/fn.81.2.f144. Arch Dis Child Fetal Neonatal Ed. 1999. PMID: 10448186 Free PMC article.

7

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Söling A, Mönch E, Kulozik AE. Reich S, et al. Among authors: monch e. Pediatr Res. 2002 May;51(5):598-601. doi: 10.1203/00006450-200205000-00009. Pediatr Res. 2002. PMID: 11978883

8

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J. Hennermann JB, et al. Among authors: monch e. J Inherit Metab Dis. 2011 Apr;34(2):399-407. doi: 10.1007/s10545-010-9270-8. Epub 2011 Feb 3. J Inherit Metab Dis. 2011. PMID: 21290184

9

Chronic kidney disease in adolescent and adult patients with phenylketonuria.

Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Vetter B, Plöckinger U, Mönch E, Querfeld U. Hennermann JB, et al. Among authors: monch e. J Inherit Metab Dis. 2013 Sep;36(5):747-56. doi: 10.1007/s10545-012-9548-0. Epub 2012 Nov 9. J Inherit Metab Dis. 2013. PMID: 23138985

10

Homozygous and double heterozygous Factor V Leiden and Factor II G20210A genotypes predispose infants to thromboembolism but are not associated with an increase of foetal loss.

Hundsdoerfer P, Vetter B, Stöver B, Bassir C, Scholz T, Grimmer I, Mönch E, Ziemer S, Rossi R, Kulozik AE. Hundsdoerfer P, et al. Among authors: monch e. Thromb Haemost. 2003 Oct;90(4):628-35. doi: 10.1160/TH03-02-0096. Thromb Haemost. 2003. PMID: 14515183

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