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Journal of Inherited Metabolic Disease|January 31, 2003

Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled populationS C J Huijbregts, L M J de Sonneville, R Licht, et al.

Molecular Genetics and Metabolism|June 2, 2007

Muscular glycogen storage diseases without increased glycogen content on histopathological examinationM Hoeksma, W F A den Dunnen, K E Niezen-Koning, et al.

Molecular Genetics and Metabolism|April 4, 2006

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?F J van Spronsen, D J Reijngoud, N M Verhoeven, et al.

Journal of Inherited Metabolic Disease|December 13, 2006

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaA M Bosch, W Tybout, F J van Spronsen, et al.

The Journal of Clinical Investigation|June 24, 1998

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreasedF J van Spronsen, D J Reijngoud, G P Smit, et al.

European Journal of Pediatrics|December 22, 1999

Liver transplantation in mitochondrial respiratory chain disordersE M Sokal, R Sokol, V Cormier, et al.

Journal of Inherited Metabolic Disease|June 21, 2026

Mapping the Severity of Phenylalanine Hydroxylase DeficiencyS Haitjema, E M van Steenis, C M A Lubout, et al.

JIMD Reports|February 23, 2013

Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic DecompensationD D J Habets, N C Schaper, H Rogozinski, et al.

Pediatrics|October 1, 1993

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timingF J van Spronsen, M van Rijn, T van Dijk, et al.

Pediatrics|June 1, 1996

Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the dayF J van Spronsen, T van Dijk, G P Smit, et al.

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Showing results (21-30 of 72) with videos related to

Sort By:

Pageof 8

Journal of Inherited Metabolic Disease|January 31, 2003

Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled populationS C J Huijbregts, L M J de Sonneville, R Licht, et al.

Molecular Genetics and Metabolism|June 2, 2007

Muscular glycogen storage diseases without increased glycogen content on histopathological examinationM Hoeksma, W F A den Dunnen, K E Niezen-Koning, et al.

Molecular Genetics and Metabolism|April 4, 2006

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?F J van Spronsen, D J Reijngoud, N M Verhoeven, et al.

Journal of Inherited Metabolic Disease|December 13, 2006

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaA M Bosch, W Tybout, F J van Spronsen, et al.

The Journal of Clinical Investigation|June 24, 1998

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreasedF J van Spronsen, D J Reijngoud, G P Smit, et al.

European Journal of Pediatrics|December 22, 1999

Liver transplantation in mitochondrial respiratory chain disordersE M Sokal, R Sokol, V Cormier, et al.

Journal of Inherited Metabolic Disease|June 21, 2026

Mapping the Severity of Phenylalanine Hydroxylase DeficiencyS Haitjema, E M van Steenis, C M A Lubout, et al.

JIMD Reports|February 23, 2013

Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic DecompensationD D J Habets, N C Schaper, H Rogozinski, et al.

Pediatrics|October 1, 1993

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timingF J van Spronsen, M van Rijn, T van Dijk, et al.

Pediatrics|June 1, 1996

Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the dayF J van Spronsen, T van Dijk, G P Smit, et al.

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