Bendicht Wermuth

Author PubWeight™ 9.77^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.	J Inherit Metab Dis	2011	1.44
2	Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.	Eur J Pediatr	2009	0.98
3	Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.	J Pediatr	2005	0.93
4	Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.	Biochim Biophys Acta	2005	0.87
5	Multisite analytical evaluation of the Abbott ARCHITECT cyclosporine assay.	Ther Drug Monit	2010	0.84
6	Hyperammonaemia as a cause of psychosis in an adolescent.	Eur J Pediatr	2003	0.84
7	Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.	Mol Genet Metab	2008	0.83
8	Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.	J Diabetes Metab Disord	2013	0.79
9	Long-term calcineurin inhibition and magnesium balance after renal transplantation.	Transpl Int	2003	0.79
10	Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.	J Hum Genet	2009	0.77
11	Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2.	Clin Chem Lab Med	2008	0.75
12	Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).	Am J Med Genet A	2005	0.75
13	Differences in catalytic activity between rat testicular and ovarian carbonyl reductases are due to two amino acids.	FEBS Lett	2005	0.75
14	A puzzling case of high serum creatinine in a healthy woman.	Nephrol Dial Transplant	2005	0.75