Published in Clin Chim Acta on March 15, 1979
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins. Am J Hum Genet (1989) 0.94
Specific binding of Haemophilus influenzae to minor gangliosides of human respiratory epithelial cells. Infect Immun (1997) 0.93
Neuraminidase deficiency: case report and review of the phenotype. J Med Genet (1987) 0.93
Canine alpha-L-fucosidosis: a storage disease of Springer Spaniels. Acta Neuropathol (1983) 0.91
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. Am J Hum Genet (1980) 0.86
Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry. Anal Bioanal Chem (2012) 0.76
Prenatal diagnosis of GM1 gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography. Am J Hum Genet (1983) 0.75
Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics (2007) 1.49
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (2001) 1.13
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
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med (2013) 0.92
N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr (1999) 0.90
Fetal presentation of Morquio disease type A. Prenat Diagn (1992) 0.90
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum Genet (1986) 0.90
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helv Paediatr Acta (1981) 0.87
Enantioselective multidimensional gas chromatography-mass spectrometry in the analysis of urinary organic acids. J Chromatogr B Biomed Sci Appl (1998) 0.87
Urinary glycosaminoglycans in Graves' ophthalmopathy. Clin Endocrinol (Oxf) (1990) 0.87
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis (2003) 0.86
Liver transplantation in two cases of propionic acidaemia. J Inherit Metab Dis (1995) 0.84
A case of combined Farber and Sandhoff disease. Eur J Pediatr (1989) 0.83
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. J Lipid Res (1999) 0.83
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern. Eur J Pediatr (1995) 0.83
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family. J Inherit Metab Dis (1999) 0.83
Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete. J Inherit Metab Dis (2001) 0.80
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe. J Inherit Metab Dis (1992) 0.80
The effect of carnitine supplementation in valproate-induced hyperammonaemia. Acta Paediatr (1996) 0.80
4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis. Clin Chem (1991) 0.79
False diagnosis of maple syrup urine disease owing to ingestion of herbal tea. N Engl J Med (1999) 0.79
[Evaluation of serum cobalamin concentration in cats with clinical signs of gastrointestinal disease]. Schweiz Arch Tierheilkd (2012) 0.79
4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. J Inherit Metab Dis (1999) 0.79
Reactions of human keratinocytes in vitro after application of nicotine. Skin Pharmacol (1994) 0.79
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
Epiphyseal cartilage chemistry in thanatophoric dwarfism. Lancet (1977) 0.78
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
Chiral compounds as indicators of inherited metabolic disease. Simultaneous stereodifferentiation of lactic-, 2-hydroxyglutaric- and glyceric acid by enantioselective cGC. Enantiomer (1996) 0.77
Unique oligosaccharide (apparently glucotetrasaccharide) in urine of patients with glycogen storage diseases. Clin Chem (1990) 0.77
[Aspartylglucosaminuria. Clinical description of 2 German patients]. Monatsschr Kinderheilkd (1989) 0.77
Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis. Eur J Pediatr (1980) 0.77
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
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
Simple laboratory determination of excess oligosacchariduria. Clin Chem (1981) 0.76
More evidence for hyperoxaluria in phosphate-treated X-linked familial hypophosphataemic rickets. Eur J Pediatr (1992) 0.75
L-carnitine: a way to decrease cellular toxicity of ifosfamide? Eur J Pediatr (1995) 0.75
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
Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats. Tierarztl Prax Ausg K Kleintiere Heimtiere (2015) 0.75
Rapid enantiomeric differentiation of urinary metabolites in a patient with bacterial overgrowth syndrome. Clin Chem (2000) 0.75
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
The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases. J Inherit Metab Dis (1983) 0.75
[Skeletal changes in 2 German children with aspartylglycosaminuria]. Rofo (1988) 0.75
Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn. Eur J Pediatr (1999) 0.75
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
Infantile muscle phosphorylase-b-kinase deficiency. A case report. Neuropediatrics (1998) 0.75
The influence of a severe burn injury on the distribution of carnitine between blood cells. Burns (1996) 0.75
Sarcosinaemia in a retarded, amaurotic child. Eur J Pediatr (1986) 0.75
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. J Inherit Metab Dis (1981) 0.75
Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase. J Pediatr (1997) 0.75
Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism. Klin Wochenschr (1979) 0.75
Zidovudine and confusion in urinary metabolic screening. Lancet (1998) 0.75
The chemistry of human neonatal femoral epiphyseal cartilage. Clin Chim Acta (1976) 0.75
Urinary oligosaccharide screening detects type VI glycogen storage disease. Clin Chem (1986) 0.75
Galactose increase in an infant whose mother is heterozygous for peripheral uridine diphosphate galactose-4-epimerase deficiency. J Inherit Metab Dis (1991) 0.75
Urinary crystals due to X-ray contrast medium. Nephron (1996) 0.75
Hypocretin measurement in an Icelandic foal with narcolepsy. J Vet Intern Med (2009) 0.75
Urinary oligosaccharide screening in patients with beta-galactosidase deficiency. Eur J Pediatr (1980) 0.75
Abnormal free thyroxine levels with analogue methods. Lancet (1983) 0.75
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
Urinary oligosaccharides in pregnant or lactating women: pitfall in screening. Clin Chem (1993) 0.75