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Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998 3.28
2 Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996 2.08
3 Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007 1.31
4 Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 2008 1.16
5 Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis 2007 1.12
6 Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology 2002 1.05
7 Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992 1.01
8 Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res 1996 0.98
9 New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res 1998 0.98
10 Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 2009 0.94
11 Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies. Brain 1999 0.93
12 Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991 0.93
13 Macrocephaly, subarachnoid fluid collection, and glutaric aciduria type I. J Child Neurol 1996 0.91
14 Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 1992 0.91
15 N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr 1999 0.90
16 Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 2000 0.90
17 Subdural hematoma and glutaric aciduria type 1. Brain Dev 1994 0.90
18 Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis 2008 0.88
19 Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1994 0.86
20 Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. Clin Endocrinol (Oxf) 2005 0.86
21 Follow-up of a child with hypoacetylaspartia. Neuropediatrics 2004 0.86
22 Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency. Eur J Pediatr 1993 0.86
23 Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem 2000 0.86
24 Mast cells contain large quantities of secretagogue-sensitive N-acetylaspartate. J Neurochem 1997 0.85
25 Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. JIMD Rep 2015 0.84
26 Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. J Med Genet 2003 0.82
27 Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 2001 0.81
28 A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J Pediatr 1995 0.81
29 Liver and liver cell transplantation for glycogen storage disease type IA. Acta Gastroenterol Belg 2006 0.81
30 Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 1996 0.81
31 N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl-D-aspartic acid in vitro. J Neurochem 1994 0.81
32 Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy. Clin Chim Acta 1984 0.80
33 Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. J Inherit Metab Dis 2003 0.79
34 Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology 2001 0.79
35 Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified. J Inherit Metab Dis 2000 0.79
36 Tryptophan levels, excessive exercise, and nutritional status in anorexia nervosa. Psychosom Med 2000 0.79
37 Are fasting plasma homocyst(e)ine levels heritable? A study of normotensive twins. J Investig Med 2000 0.78
38 Maple syrup urine disease (MSUD): screening for known mutations in Italian patients. J Inherit Metab Dis 1994 0.78
39 Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis 2004 0.77
40 Stability of enzymes of lysosomal origin in human cerebrospinal fluid. Clin Chim Acta 1987 0.77
41 Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening. Genet Test 2005 0.77
42 Wernicke-like encephalopathy during classic maple syrup urine disease decompensation. J Inherit Metab Dis 2012 0.76
43 Detection of increased urinary N-acetylaspartylglutamate in Canavan disease. Eur J Pediatr 1994 0.76
44 Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients. Metabolism 1999 0.76
45 Enzymes of lysosomal origin in the cerebrospinal fluid and plasma of patients with multiple sclerosis. Eur Neurol 1993 0.76
46 Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. J Inherit Metab Dis 2001 0.75
47 Propionic acidaemia with basal ganglia stroke: treatment of acute extrapyramidal symptoms with L-DOPA. J Inherit Metab Dis 2001 0.75
48 Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. J Inherit Metab Dis 1996 0.75
49 The lysosomal beta-D-N-acetylglucosaminidase isozymes in human plasma during pregnancy: separation and quantification by a simple automated procedure. Clin Chim Acta 1989 0.75
50 Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria. J Inherit Metab Dis 2002 0.75
51 Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inherit Metab Dis 1993 0.75
52 Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin-dependent diabetics. Acta Diabetol Lat 1988 0.75
53 Behaviour of several enzymes of lysosomal origin in human plasma during whole blood storage. Clin Chim Acta 1984 0.75
54 Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency. Eur J Pediatr 1994 0.75
55 Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case. Eur J Pediatr 1995 0.75
56 Enzymes of lysosomal origin in plasma of twin neonates. Clin Chim Acta 1993 0.75
57 Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. J Inherit Metab Dis 2000 0.75
58 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). Am J Med Genet 1999 0.75
59 Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia. Pediatr Res 1994 0.75
60 Enzymes of lysosomal origin in the serum of infants of diabetic mothers behavior in the first days after birth. Acta Diabetol Lat 1989 0.75
61 Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. Am J Med Genet A 2004 0.75
62 Serum enzymes of lysosomal origin as indicators of the metabolic control in diabetes: comparison with glycated hemoglobin and albumin. Acta Diabetol Lat 1986 0.75
63 Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case. Epilepsia 1989 0.75
64 [Influence of mineral waters as a diluent of milk on the excretion of sugar, nitrogen and fats]. Minerva Pediatr 1984 0.75
65 NADPH oxidase activity and chemotaxis by neutrophils in two patients with glycogen storage disease type Ib treated with recombinant human granulocyte-monocyte colony-stimulating factor. Haematologica 1996 0.75
66 Circadian and circannual rhythms of several enzymes of lysosomal origin in human plasma. Clin Chim Acta 1988 0.75
67 [Calcium and phosphorus in relation to the water for diluting milk in the 1st months of life]. Minerva Pediatr 1986 0.75