PubRank

Georg F Hoffmann

Author PubWeight™ 125.81‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Principles of pediatric emergency care. Dtsch Arztebl Int 2009 3.14
2 Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003 2.66
3 Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol 2010 2.60
4 NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci 2002 2.54
5 Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006 2.31
6 Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011 2.14
7 Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet 2005 1.87
8 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat 2003 1.86
9 Feasibility study and control values of transient elastography in healthy children. Eur J Pediatr 2011 1.80
10 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 2012 1.77
11 Design principles for virtual patients: a focus group study among students. Med Educ 2009 1.48
12 Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis 2013 1.45
13 Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007 1.44
14 Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis 2012 1.41
15 Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 2012 1.34
16 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010 1.34
17 Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 2006 1.32
18 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2012 1.31
19 Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010 1.31
20 Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 2007 1.28
21 Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 2002 1.27
22 Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 2010 1.26
23 Mevalonate kinase deficiency and autoinflammatory disorders. N Engl J Med 2007 1.26
24 Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 2006 1.23
25 An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 2012 1.23
26 Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 2009 1.20
27 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 2007 1.18
28 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
29 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010 1.13
30 Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol 2003 1.12
31 Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain 2010 1.11
32 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
33 A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med 2010 1.09
34 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet 2013 1.09
35 Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem 2005 1.09
36 Vitamin D deficiency in healthy children in a sunny country: associated factors. Int J Food Sci Nutr 2008 1.09
37 beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 2004 1.08
38 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003 1.07
39 Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 2009 1.07
40 Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online 2005 1.07
41 Determinants of blood pressure in preschool children: the role of parental smoking. Circulation 2011 1.07
42 Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med 2011 1.06
43 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
44 Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet J Rare Dis 2013 1.04
45 eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003 1.02
46 Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis 2010 1.01
47 PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat 2012 1.01
48 Beta-carotene cleavage products after oxidation mediated by hypochlorous acid--a model for neutrophil-derived degradation. Free Radic Biol Med 2003 1.00
49 Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 2012 1.00
50 Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 2003 0.99
51 One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects. Transplantation 2009 0.99
52 Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004 0.98
53 Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J Pediatr 2007 0.97
54 Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 2004 0.97
55 Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol 2004 0.96
56 Liver cell transplantation: basic investigations for safe application in infants and small children. Cell Transplant 2009 0.95
57 Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 2004 0.95
58 Liver transplantation for inborn errors of metabolism. Transplantation 2005 0.94
59 A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat 2006 0.93
60 Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease. Biochim Biophys Acta 2011 0.92
61 Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003 0.92
62 Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta 2010 0.92
63 A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 2002 0.92
64 DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet 2012 0.92
65 Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics 2002 0.90
66 Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. Pediatr Neurol 2006 0.90
67 Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet 2004 0.90
68 Phenylalanine reduces synaptic density in mixed cortical cultures from mice. Pediatr Res 2006 0.90
69 A prospective three-step intervention study to prevent medication errors in drug handling in paediatric care. J Clin Nurs 2014 0.89
70 Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. J Child Neurol 2012 0.89
71 Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab 2011 0.88
72 Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. Clin Chem 2004 0.88
73 Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects. Mol Genet Metab 2010 0.88
74 Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients. Mov Disord 2004 0.88
75 Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. FEBS J 2006 0.87
76 High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. Pediatr Transplant 2009 0.86
77 Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity. Amino Acids 2009 0.86
78 Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. J Inherit Metab Dis 2013 0.86
79 Acylcarnitine profiles of preterm infants over the first four weeks of life. Pediatr Res 2002 0.86
80 Outcome of parent-physician communication skills training for pediatric residents. Patient Educ Couns 2010 0.86
81 Differential diagnosis in patients with suspected bile acid synthesis defects. World J Gastroenterol 2012 0.86
82 Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 2002 0.85
83 The pattern of Down syndrome among children in Qatar: a population-based study. Birth Defects Res A Clin Mol Teratol 2006 0.85
84 Molecular neonatal screening for homocystinuria in the Qatari population. Hum Mutat 2009 0.85
85 The impact of dietary and lifestyle factors on the risk of dental caries among young children in Qatar. J Egypt Public Health Assoc 2013 0.85
86 Nutritional Rickets among Children in a Sun Rich Country. Int J Pediatr Endocrinol 2010 0.84
87 Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I. J Inherit Metab Dis 2014 0.84
88 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
89 The molecular basis of phenylalanine hydroxylase deficiency in Croatia. Hum Mutat 2003 0.84
90 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann Neurol 2007 0.84
91 Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. J Inherit Metab Dis 2010 0.84
92 Natural course of glutamine synthetase deficiency in a 3 year old patient. Mol Genet Metab 2011 0.83
93 Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration. Clin Chim Acta 2010 0.82
94 Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. J Inherit Metab Dis 2011 0.82
95 Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy? Brain 2006 0.81
96 Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C. J Neurochem 2002 0.81
97 Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. Biochim Biophys Acta 2008 0.81
98 Monitoring of intraportal liver cell application in children. Cell Transplant 2010 0.81
99 Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors. Neurochem Int 2003 0.81
100 Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis 2012 0.81
101 Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? J Inherit Metab Dis 2012 0.80
102 Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem 2006 0.79
103 Expression and function of matrix Gla protein in human peritoneal mesothelial cells. Nephrol Dial Transplant 2010 0.78
104 Ernst Moro (1874-1951)--a great pediatric career started at the rise of university-based pediatric research but was curtailed in the shadows of Nazi laws. Eur J Pediatr 2005 0.78
105 Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons. J Neurosci Res 2002 0.78
106 Liver cell transplantation in children. Clin Transplant 2009 0.78
107 Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats. Neurochem Int 2004 0.78
108 The diagnosis of mitochondrial HMG-CoA synthase deficiency. J Pediatr 2002 0.77
109 Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Mol Genet Metab 2013 0.77
110 L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol 2002 0.77
111 Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. J Inherit Metab Dis 2010 0.76
112 Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 2007 0.76
113 Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. Hum Mutat 2012 0.76
114 Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? Mol Genet Metab 2007 0.76
115 Screening for congenital disorders of glycosylation in the first weeks of life. J Inherit Metab Dis 2012 0.76
116 Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. Biofactors 2008 0.76
117 CNDP1 genotype and renal survival in pediatric nephropathies. J Pediatr Endocrinol Metab 2016 0.76
118 Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. JIMD Rep 2015 0.76
119 Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation. Clin Chim Acta 2003 0.76
120 Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia. Pediatr Res 2002 0.76
121 Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). Mov Disord 2007 0.76
122 Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders. Pediatr Res 2005 0.76
123 Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clin Chim Acta 2002 0.75
124 Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 2006 0.75
125 Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet A 2013 0.75
126 Newborn screening-progress and challenges. J Inherit Metab Dis 2010 0.75
127 A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience. Pediatr Transplant 2009 0.75
128 Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status. Epileptic Disord 2007 0.75