PubRank

A C Sewell

Author PubWeight™ 30.53‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics 2007 1.49
2 Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001 1.13
3 An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta 1979 1.08
4 Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature. Clin Genet 1982 0.96
5 SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 2013 0.92
6 N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr 1999 0.90
7 Fetal presentation of Morquio disease type A. Prenat Diagn 1992 0.90
8 Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum Genet 1986 0.90
9 Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helv Paediatr Acta 1981 0.87
10 Enantioselective multidimensional gas chromatography-mass spectrometry in the analysis of urinary organic acids. J Chromatogr B Biomed Sci Appl 1998 0.87
11 Urinary glycosaminoglycans in Graves' ophthalmopathy. Clin Endocrinol (Oxf) 1990 0.87
12 Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis 2003 0.86
13 Liver transplantation in two cases of propionic acidaemia. J Inherit Metab Dis 1995 0.84
14 A case of combined Farber and Sandhoff disease. Eur J Pediatr 1989 0.83
15 Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. J Lipid Res 1999 0.83
16 Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern. Eur J Pediatr 1995 0.83
17 Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family. J Inherit Metab Dis 1999 0.83
18 Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete. J Inherit Metab Dis 2001 0.80
19 The effect of carnitine supplementation in valproate-induced hyperammonaemia. Acta Paediatr 1996 0.80
20 Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe. J Inherit Metab Dis 1992 0.80
21 4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis. Clin Chem 1991 0.79
22 [Evaluation of serum cobalamin concentration in cats with clinical signs of gastrointestinal disease]. Schweiz Arch Tierheilkd 2012 0.79
23 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. J Inherit Metab Dis 1999 0.79
24 Reactions of human keratinocytes in vitro after application of nicotine. Skin Pharmacol 1994 0.79
25 Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase. Clin Chim Acta 1994 0.79
26 False diagnosis of maple syrup urine disease owing to ingestion of herbal tea. N Engl J Med 1999 0.79
27 Epiphyseal cartilage chemistry in thanatophoric dwarfism. Lancet 1977 0.78
28 The variation of carnitine content in human blood cells during disease--a study in bacterial infection and inflammatory bowel disease. Eur J Pediatr 1994 0.78
29 Unique oligosaccharide (apparently glucotetrasaccharide) in urine of patients with glycogen storage diseases. Clin Chem 1990 0.77
30 Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis. Eur J Pediatr 1980 0.77
31 [Aspartylglucosaminuria. Clinical description of 2 German patients]. Monatsschr Kinderheilkd 1989 0.77
32 Chiral compounds as indicators of inherited metabolic disease. Simultaneous stereodifferentiation of lactic-, 2-hydroxyglutaric- and glyceric acid by enantioselective cGC. Enantiomer 1996 0.77
33 Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition. Eur J Pediatr 1995 0.77
34 Simple laboratory determination of excess oligosacchariduria. Clin Chem 1981 0.76
35 Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry. Clin Chim Acta 2000 0.76
36 More evidence for hyperoxaluria in phosphate-treated X-linked familial hypophosphataemic rickets. Eur J Pediatr 1992 0.75
37 L-carnitine: a way to decrease cellular toxicity of ifosfamide? Eur J Pediatr 1995 0.75
38 Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis. J Cell Mol Med 2007 0.75
39 Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats. Tierarztl Prax Ausg K Kleintiere Heimtiere 2015 0.75
40 Rapid enantiomeric differentiation of urinary metabolites in a patient with bacterial overgrowth syndrome. Clin Chem 2000 0.75
41 The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases. J Inherit Metab Dis 1983 0.75
42 Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. J Chromatogr B Biomed Sci Appl 2000 0.75
43 Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser). Ultraschall Med 2014 0.75
44 Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. J Inherit Metab Dis 1981 0.75
45 Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides. J Inherit Metab Dis 2003 0.75
46 Sarcosinaemia in a retarded, amaurotic child. Eur J Pediatr 1986 0.75
47 Zidovudine and confusion in urinary metabolic screening. Lancet 1998 0.75
48 Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase. J Pediatr 1997 0.75
49 Urinary crystals due to X-ray contrast medium. Nephron 1996 0.75
50 Urinary oligosaccharide screening in patients with beta-galactosidase deficiency. Eur J Pediatr 1980 0.75
51 Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism. Klin Wochenschr 1979 0.75
52 Hypocretin measurement in an Icelandic foal with narcolepsy. J Vet Intern Med 2009 0.75
53 [Skeletal changes in 2 German children with aspartylglycosaminuria]. Rofo 1988 0.75
54 Galactose increase in an infant whose mother is heterozygous for peripheral uridine diphosphate galactose-4-epimerase deficiency. J Inherit Metab Dis 1991 0.75
55 Abnormal free thyroxine levels with analogue methods. Lancet 1983 0.75
56 The chemistry of human neonatal femoral epiphyseal cartilage. Clin Chim Acta 1976 0.75
57 Infantile muscle phosphorylase-b-kinase deficiency. A case report. Neuropediatrics 1998 0.75
58 Urinary oligosaccharide screening detects type VI glycogen storage disease. Clin Chem 1986 0.75
59 The influence of a severe burn injury on the distribution of carnitine between blood cells. Burns 1996 0.75
60 Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn. Eur J Pediatr 1999 0.75
61 Urinary oligosaccharides in pregnant or lactating women: pitfall in screening. Clin Chem 1993 0.75