Published in Eur J Pediatr on June 01, 1984
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Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. Pediatr Radiol (1995) 0.90
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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. Eur J Hum Genet (1998) 0.88
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. Neuropediatrics (2006) 0.87
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Two cases of phosphoenolpyruvate carboxykinase deficiency. Acta Paediatr Scand (1976) 0.87
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Studies on the optimal cooling rate for freezing human diploid fibroblasts. Exp Cell Res (1973) 0.86
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. Eur J Pediatr (1979) 0.86
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Comparison of the protein quality of dietetically treated phenylketonuria patients with the recommendations of the WHO Expert Consultation. Eur J Pediatr (1996) 0.85
Structural white matter changes in adolescents and young adults with maple syrup urine disease. J Inherit Metab Dis (2013) 0.85
Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr (2000) 0.85
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White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr (1993) 0.84