PubRank

Chris Mühlhausen

Author PubWeight™ 17.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011 2.14
2 Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010 1.31
3 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 2007 1.31
4 Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 2009 1.20
5 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 2007 1.18
6 AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways. Traffic 2008 1.13
7 Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 2006 1.04
8 Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells. J Biol Chem 2011 0.92
9 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet 2008 0.91
10 Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta 2013 0.86
11 The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat 2008 0.86
12 Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta 2008 0.86
13 Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias. Pflugers Arch 2008 0.85
14 Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab 2012 0.84
15 Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol Genet Metab 2008 0.83
16 Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis 2012 0.81
17 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3. J Mol Med (Berl) 2007 0.77