Published in Ann Neurol on November 01, 2010
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Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab Dis (2014) 0.91
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Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep (2015) 0.78
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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis (2016) 0.75
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
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Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
NPC-db, a Niemann-Pick type C disease gene variation database. Hum Mutat (2008) 1.17
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet (2008) 1.16
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab (2007) 1.16
Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol (2004) 1.15
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
Iron regulatory proteins secure mitochondrial iron sufficiency and function. Cell Metab (2010) 1.14
AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways. Traffic (2008) 1.13
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat (2008) 1.13
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet (2011) 1.13
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Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain (2010) 1.11
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest (2002) 1.10
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis (2012) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
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