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J Zschocke

Showing results (41-50 of 86) with videos related to

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Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 11, 2001
Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuriaA Rupp, R Kreis, J Zschocke, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|December 1, 1994
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemiaJ Zschocke, C A Graham, F J Stewart, et al.
Journal of Inherited Metabolic Disease|March 21, 1998
In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrationsJ Weglage, H E Möller, D Wiedermann, et al.
Journal of Inherited Metabolic Disease|February 6, 2009
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU statusB Kohlschütter, M Ellerbrok, M Merkel, et al.
European Journal of Pediatrics|March 21, 1998
Delayed onset of phenylketonuriaJ Weglage, A van Teefelen-Heithoff, J Zschocke, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrationsD Haas, S Armbrust, J-P Haas, et al.
Pediatric Research|December 5, 2000
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolismJ Zschocke, J P Ruiter, J Brand, et al.
Clinical Neurology and Neurosurgery|December 3, 2014
Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomasC Fauth, K Rostasy, M Rath, et al.
Neurology|June 30, 2005
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyS Külkens, I Harting, S Sauer, et al.
Neuropediatrics|August 18, 2001
Atypical and variable clinical presentation of glutaric aciduria type ID I Zafeiriou, J Zschocke, P Augoustidou-Savvopoulou, et al.
Pageof 9

Showing results (41-50 of 86) with videos related to

Sort By:
Pageof 9
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 11, 2001
Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuriaA Rupp, R Kreis, J Zschocke, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|December 1, 1994
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemiaJ Zschocke, C A Graham, F J Stewart, et al.
Journal of Inherited Metabolic Disease|March 21, 1998
In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrationsJ Weglage, H E Möller, D Wiedermann, et al.
Journal of Inherited Metabolic Disease|February 6, 2009
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU statusB Kohlschütter, M Ellerbrok, M Merkel, et al.
European Journal of Pediatrics|March 21, 1998
Delayed onset of phenylketonuriaJ Weglage, A van Teefelen-Heithoff, J Zschocke, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrationsD Haas, S Armbrust, J-P Haas, et al.
Pediatric Research|December 5, 2000
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolismJ Zschocke, J P Ruiter, J Brand, et al.
Clinical Neurology and Neurosurgery|December 3, 2014
Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomasC Fauth, K Rostasy, M Rath, et al.
Neurology|June 30, 2005
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyS Külkens, I Harting, S Sauer, et al.
Neuropediatrics|August 18, 2001
Atypical and variable clinical presentation of glutaric aciduria type ID I Zafeiriou, J Zschocke, P Augoustidou-Savvopoulou, et al.
Pageof 9